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Gene: Pgbd1 MGI:2441675

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Gene Summary

Name:
piggyBac transposable element derived 1
Synonyms:
4921509E05Rik

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal heart morphology Pgbd1em1(IMPC)Tcp HOM Late adult 0.00
abnormal lymph node morphology Pgbd1em1(IMPC)Tcp HOM Late adult 0.00
abnormal skin morphology Pgbd1em1(IMPC)Tcp HOM Late adult 0.00
abnormal pancreas morphology Pgbd1em1(IMPC)Tcp HOM Late adult 0.00
anophthalmia Pgbd1em1(IMPC)Tcp HOM Early adult 0.00
enlarged urinary bladder Pgbd1em1(IMPC)Tcp HOM Late adult 0.00
abnormal uterus morphology Pgbd1em1(IMPC)Tcp HOM Late adult 0.00
enlarged lymph nodes Pgbd1em1(IMPC)Tcp HOM Late adult 0.00
small testis Pgbd1em1(IMPC)Tcp HOM Late adult 0.00
enlarged prostate gland Pgbd1em1(IMPC)Tcp HOM Late adult 0.00
abnormal sternum morphology Pgbd1em1(IMPC)Tcp HOM Late adult 0.00
small uterus Pgbd1em1(IMPC)Tcp HOM Late adult 0.00
small adrenal glands Pgbd1em1(IMPC)Tcp HOM Late adult 0.00
abnormal kidney morphology Pgbd1em1(IMPC)Tcp HOM Late adult 0.00

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Histopathology

Images

14 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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X-ray

XRay Images Whole Body Dorso Ventral

14 Images

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Gross Pathology and Tissue Collection

Images

12 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Skull Lateral Orientation

14 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Gross Pathology and Tissue Collection

Images

10 Images

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Eye Morphology

Images Ophthalmoscopy

11 Images

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Histopathology

Images

1 Images

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Eye Morphology

Images Slit Lamp

1 Images

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FCS thumbnail FCS
Immunophenotyping

Panel B FCS file(s)

4 Images

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FCS thumbnail FCS
Immunophenotyping

Panel A FCS file(s)

4 Images

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Human diseases caused by Pgbd1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Pgbd1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Microphthalmia/Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Microphthalmia/Coloboma 5
Bilateral microphthalmos, Microphthalmia, Anophthalmia OMIM:611638
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Absence of lymph node germinal center, Endocardial fibrosis OMIM:235550
Microphthalmia, Isolated 8
Optic nerve hypoplasia, Microphthalmia, True anophthalmia, Anophthalmia OMIM:615113
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Infertility, Abnormal lymph node morphology OMIM:136580
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Delayed puberty, Hypoplasia of the ovary, Decreased circulating gonadotropin concentration, Decre... OMIM:614841
Squamous Cell Carcinoma Of The Esophagus
Clinodactyly of the 5th toe, Lymphadenopathy ORPHA:99977
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia OMIM:600776
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Gonadal dysgenesis, Abnormal female external genitalia morphology, Male hypogonadism, Abnormal va... ORPHA:168563
Ovarian Dysgenesis 2
Delayed puberty, Premature ovarian insufficiency, Secondary amenorrhea, Hypergonadotropic hypogon... OMIM:300510
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypoplasia of the uterus, Azoospermia, Decreased circulating follicle stimulating hormone concent... OMIM:614837
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy, Axillary lymphadenopathy, Inguinal lymphadenopathy OMIM:616126
46,Xy Sex Reversal 3
Gonadal dysgenesis, Clitoral hypertrophy, Penoscrotal hypospadias, Exaggerated rugosity of the la... OMIM:612965
Ovarian Dysgenesis 6
Absence of pubertal development, Primary amenorrhea, Hypoplasia of the uterus, Hypergonadotropic ... OMIM:618078
Lipoid Congenital Adrenal Hyperplasia
Renal salt wasting, Adrenogenital syndrome, Hypospadias, Congenital adrenal hyperplasia OMIM:201710
Satoyoshi Syndrome
Abnormal metaphysis morphology, Abnormal femur morphology, Abnormal hip bone morphology, Hypoplas... ORPHA:3130
Premature Ovarian Failure 7
Gonadal dysgenesis, Clitoral hypertrophy, Premature ovarian insufficiency, Secondary amenorrhea, ... OMIM:612964
Anencephaly 2
Anophthalmia OMIM:619452
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypoplasia of the uterus, Hypospadias, Abnormal reproductive sys... ORPHA:1916
Ovarian Dysgenesis 9
Delayed puberty, Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone ci... OMIM:619665
46,Xy Sex Reversal 11
Decreased cirrculating antimullerian hormone circulation, Abnormal internal genitalia, Urogenital... OMIM:273250
Ovarian Dysgenesis 7
Delayed puberty, Elevated circulating follicle stimulating hormone level, Elevated circulating lu... OMIM:618117
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia OMIM:615524
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Delayed puberty, Ambiguous genitalia, male, Absence of secondary sex characteristics, Precocious ... ORPHA:90793
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni... ORPHA:983
Leydig Cell Hypoplasia
Absence of secondary sex characteristics, Testicular gonadoblastoma, Aplasia of the uterus, Femal... ORPHA:755
Perrault Syndrome 6
Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Streak ovary, Hypoplas... OMIM:617565
Premature Ovarian Failure 6
Premature ovarian insufficiency, Secondary amenorrhea, Elevated circulating follicle stimulating ... OMIM:612310
Premature Ovarian Failure 18
Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone circulation, Hypopl... OMIM:619203
Burkitt Lymphoma
Abnormal lymph node morphology, Abnormality of the ovary, Abnormality of the spleen, Abnormality ... ORPHA:543
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Increased circulating ACTH level, Ambiguous genitalia, Congenital adrenal hyperplasia OMIM:613571
Normosmic Congenital Hypogonadotropic Hypogonadism
Delayed puberty, Breast hypoplasia, Absence of secondary sex characteristics, Hypoplasia of the u... ORPHA:432
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia OMIM:601820
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Ectopic kidney, Unilateral renal agenesis, Azoospermia, Bicornuate uterus, Abnormal rib morpholog... OMIM:601076
Hypogonadism, Male
Testicular atrophy, Male hypogonadism, Micropenis, Hypospadias OMIM:241100
Perrault Syndrome 3
Hypergonadotropic hypogonadism, Elevated circulating follicle stimulating hormone level, Elevated... OMIM:614129
Premature Ovarian Failure 13
Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Female infertility, Amen... OMIM:617442
Ovarian Dysgenesis 5
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:617690
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Clitoral hypertrophy, Precocious puberty in ... OMIM:202010
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Amed Syndrome, Digenic
Bone marrow hypocellularity, Adrenal hypoplasia, Hypoplasia of the uterus, Long thumb OMIM:619151
Testicular Agenesis
Hypoplasia of the uterus, Abnormal vas deferens morphology, Urogenital sinus anomaly, Decreased s... ORPHA:325124
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Follicular hyperplasia ORPHA:60026
Premature Ovarian Failure 3
Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:608996
Mayer-Rokitansky-Kuster-Hauser Syndrome
Abnormal female external genitalia morphology, Aplasia of the upper vagina, Hypoplasia of the ute... OMIM:277000
Reticuloendotheliosis, X-Linked
Jaundice, Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Acromesomelic Dysplasia 3
Hypoplasia of the ulna, Fibular aplasia, Short finger, Radial deviation of finger, Tarsal synosto... OMIM:609441
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Ambiguous genitalia, male, Clitoral hypertrophy, Increased circulating androstenedione concentrat... ORPHA:90791
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Renal salt wasting, Hypospadias, Adrenal hyperplasia, Adrenogenital syndrome, Elevated circulatin... OMIM:201910
Seckel Syndrome 7
Abnormal carpal morphology, Clinodactyly of the 5th finger, Short middle phalanx of the 5th finge... OMIM:614851
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Male pseudohermaphroditism, Adrenal hyperplasia, Adrenogenital syndrome, Primary amenorrhea, Ambi... OMIM:202110
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Premature pubarche, Penoscrotal hypospadias, Hypospadias, Impaired cortisol response to corticotr... OMIM:201810
Oculocerebrocutaneous Syndrome
Microphthalmia, Anophthalmia OMIM:164180
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Delayed puberty, Ambiguous genitalia, male, Absence of secondary sex characteristics, Abnormal se... ORPHA:90796
Familial Papillary Or Follicular Thyroid Carcinoma
Abnormal lymph node morphology, Papillary thyroid carcinoma, Chronic noninfectious lymphadenopath... ORPHA:319487
Matthew-Wood Syndrome
Annular pancreas, Aplasia/Hypoplasia of the pancreas, Vesicoureteral reflux, Abnormal spleen morp... ORPHA:2470
Perlman Syndrome
Hyperinsulinemia, Hepatomegaly, Abnormal pancreas morphology, Hypoplasia of penis, Cryptorchidism ORPHA:2849
Adenocarcinoma Of The Esophagus
Clinodactyly of the 5th toe, Lymphadenopathy ORPHA:99976
Perrault Syndrome 4
Premature ovarian insufficiency, Hypoplasia of the ovary, Secondary amenorrhea, Bicornuate uterus... OMIM:615300
Isolated Follicle Stimulating Hormone Deficiency
Delayed puberty, Azoospermia, Decreased female libido, Oligozoospermia, Testicular atrophy, Delay... ORPHA:52901
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:614842
Dietary Iron Overload Disease
Abnormal adrenal morphology, Hepatomegaly, Abnormal pancreas morphology, Hepatocellular carcinoma... ORPHA:139507
Microphthalmia, Syndromic 9
Multilobulated spleen, Hypoplastic left atrium, Pelvic kidney, Truncus arteriosus, Ventricular se... OMIM:601186
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy, Papillary thyroid carcinom... ORPHA:97290
Satoyoshi Syndrome
Genu valgum, Osteolytic defects of the phalanges of the hand, Short metatarsal, Short metacarpal,... OMIM:600705
Complete Androgen Insensitivity Syndrome
Blind vagina, Female external genitalia in individual with 46,XY karyotype, Delayed puberty, Abno... ORPHA:99429
Estrogen Resistance Syndrome
Breast hypoplasia, Absence of secondary sex characteristics, Hyperinsulinemia, Delayed epiphyseal... ORPHA:785
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Increased circulating antimullerian hormone concentration, Aplasia of the u... ORPHA:90797
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Rocker bottom foot, Delayed puberty, Abnormal female external genitalia morphology, Abnormal ovar... ORPHA:95699
Meckel Syndrome, Type 8
Microphthalmia, Anophthalmia OMIM:613885
46,Xx Sex Reversal 2
Hypoplasia of the uterus, Ovotestis, Azoospermia, Infertility, Bifid scrotum, Decreased serum tes... OMIM:278850
Immunodeficiency 104
Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:608971
46,Xy Sex Reversal 7
Streak ovary, Abnormal epididymis morphology, Gonadoblastoma, Hypoplasia of the fallopian tube, P... OMIM:233420
Kerion Celsi
Lymphadenopathy ORPHA:499
Laryngeal Neuroendocrine Tumor
Adrenocorticotropic hormone excess, Inappropriate antidiuretic hormone secretion, Chronic noninfe... ORPHA:100083
Roifman Syndrome
Clinodactyly of the 5th finger, Lymphadenopathy, Broad femoral head, Noncompaction cardiomyopathy... ORPHA:353298
Immunodeficiency 75 With Lymphoproliferation
Follicular hyperplasia, Hepatosplenomegaly, Lymphadenopathy OMIM:619126
Estrogen Resistance
Delayed puberty, Increased circulating osteocalcin level, Hyperinsulinemia, Breast aplasia, Incre... OMIM:615363
Renal Cysts And Diabetes Syndrome
Biliary tract abnormality, Decreased numbers of nephrons, Atretic vas deferens, Epididymal cyst, ... OMIM:137920
Müllerian Aplasia And Hyperandrogenism
Increased serum testosterone level, Abnormal vagina morphology, Abnormality of the ovary, Brachyd... ORPHA:247768
Thrombocytopenia-Absent Radius Syndrome
Fibular aplasia, Clinodactyly of the 5th finger, Tibial torsion, Finger syndactyly, Aplasia/Hypop... ORPHA:3320
Spermatogenic Failure, X-Linked, 2
Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia OMIM:309120
Hemochromatosis, Type 1
Cirrhosis, Hepatomegaly, Azoospermia, Hepatocellular carcinoma, Cardiomyopathy, Impotence, Spleno... OMIM:235200
46,Xx Ovotesticular Difference Of Sex Development
Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r... ORPHA:2138
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Liver abscess, Abnormal lymph node morphology, Abnormality of the lymphatic system, Abnormal test... ORPHA:54251
Immunodeficiency With Hyper-Igm, Type 5
Lymphadenopathy, Epididymitis OMIM:608106
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Anophthalmia ORPHA:411986
Maternal Uniparental Disomy Of Chromosome 6
Clitoral hypertrophy, Increased serum testosterone level, Slender long bone, Hydrocele testis, Co... ORPHA:96181
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Ovarian neoplasm, Hepatomegaly, Lymphadenopathy, Abnormal peritoneum mo... ORPHA:83469
46,Xy Sex Reversal 4
Gonadal dysgenesis, Hypoplastic labia majora, Hypergonadotropic hypogonadism, Ureteropelvic junct... OMIM:154230
Renal-Hepatic-Pancreatic Dysplasia 1
Enlarged kidney, Hyperechogenic pancreas, Cholestasis, Biliary cirrhosis, Aortic valve stenosis, ... OMIM:208540
Renal And Mullerian Duct Hypoplasia
Aplasia of the uterus, Anteriorly displaced urethral meatus, Renal hypoplasia, Horseshoe kidney, ... OMIM:266810
Kimura Disease
Follicular hyperplasia, Abnormal salivary gland morphology, Lymphadenopathy ORPHA:482
Cardiac-Urogenital Syndrome
Enlarged kidney, Mesocardia, Aplasia of the uterus, Bifid scrotum, Coronary sinus enlargement, Dy... OMIM:618280
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Female external genitalia in individual with 46,XY karyotype, Abnormal female external genitalia ... ORPHA:90790
Meckel Syndrome 12
Rocker bottom foot, Ureteral hypoplasia, Renal hypoplasia, Vaginal atresia, Hypoplasia of the uterus OMIM:616258
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Delayed puberty, Ambiguous genitalia, male, Clitoral hypertrophy, Absence of secondary sex charac... ORPHA:289548
Thymic Neuroendocrine Tumor
Neoplasm of the endocrine system, Mediastinal lymphadenopathy, Pancreatic islet cell adenoma, Neo... ORPHA:97289
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Unilateral renal agenesis, Azoospermia, Decreased circulating follicle stimulating hormone concen... OMIM:308700
Kallmann Syndrome With Spastic Paraplegia
Unilateral renal agenesis, Decreased circulating follicle stimulating hormone concentration, Decr... OMIM:308750
Kennedy Disease
Decreased fertility, Type II diabetes mellitus, Erectile dysfunction, Testicular atrophy ORPHA:481
Histiocytosis-Lymphadenopathy Plus Syndrome
Rocker bottom foot, Flexion contracture of toe, Joint contracture of the 5th finger, Pulmonic ste... OMIM:602782
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Delayed puberty, Ambiguous genitalia, male, Clitoral hypertrophy, Absence of secondary sex charac... ORPHA:168558
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Preaxial polydactyly, Short ribs, Short long bone, Femoral bowing, Acetabular spurs, Ventricular ... OMIM:615503
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Decreased circulating renin level, Adrenogenital syndrome, Hyperaldosteronism OMIM:103900
Autoinflammation With Episodic Fever And Lymphadenopathy
Lymphadenopathy, Hepatomegaly, Splenomegaly, Recurrent tonsillitis OMIM:618852
Myoectodermal Gonadal Dysgenesis Syndrome
Gonadal dysgenesis, Unilateral renal agenesis, Accessory spleen, Bifid distal phalanx of toe, Cli... OMIM:618419
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Genital ulcers, Hepatomegaly, Lymph node hypoplasia, Splenomegaly, Aplasia of the thymus, Absent ... OMIM:602450
Mullerian Aplasia And Hyperandrogenism
Increased circulating androstenedione concentration, Unilateral renal agenesis, Aplasia of the va... OMIM:158330
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:86893
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Short ribs, Hypoplast... OMIM:208500
Spinocerebellar Ataxia 32
Infertility, Testicular atrophy, Azoospermia OMIM:613909
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphadenopathy, Hepatitis, Splenomegaly ORPHA:444463
Anophthalmia Plus Syndrome
Anophthalmia ORPHA:1104
Spinocerebellar Ataxia Type 32
Male infertility, Testicular atrophy, Azoospermia ORPHA:276183
Granulomatous Slack Skin
Acute kidney injury, Nephrocalcinosis, Abnormal lymph node morphology ORPHA:33111
Mayer-Rokitansky-Küster-Hauser Syndrome
Unilateral renal agenesis, Ectopic kidney, Endometriosis, Aplasia of the uterus, Ectopic ovary, D... ORPHA:3109
Autoimmune Polyendocrinopathy Type 1
Abnormal circulating calcium-phosphate regulating hormone concentration, Hypoparathyroidism, Adre... ORPHA:3453
Mu-Heavy Chain Disease
Hepatomegaly, Bence Jones Proteinuria, Lymphadenopathy, Splenomegaly, Nephropathy ORPHA:100024
Meacham Syndrome
Hydrometrocolpos, Situs inversus totalis, Transposition of the great arteries, Abnormal fallopian... ORPHA:3097
46,Xy Partial Gonadal Dysgenesis
Delayed puberty, Abnormal labia morphology, Testicular gonadoblastoma, Gonadal dysgenesis, Clitor... ORPHA:251510
Follicular Lymphoma
Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly, Abnormal peritoneum morphology ORPHA:545
Roifman Syndrome
Hepatomegaly, Clinodactyly of the 5th finger, Lymphadenopathy, Noncompaction cardiomyopathy, Shor... OMIM:616651
Microphthalmia, Syndromic 5
Optic nerve hypoplasia, Microphthalmia, Anophthalmia OMIM:610125
Microcephaly 20, Primary, Autosomal Recessive
Renal hypoplasia, Ureteral agenesis, Hypoplasia of the uterus, Vaginal atresia OMIM:617914
Symptomatic Form Of Hfe-Related Hemochromatosis
Cirrhosis, Hepatomegaly, Erectile dysfunction, Decreased libido, Infertility, Hepatocellular carc... ORPHA:465508
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Hepatomegaly, Primary testicular failure, Decreased glomerular filtration rate,... ORPHA:85450
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Abnormal circulating renin, Ventricular hypertrophy, Nephrolithiasis, Adrenal hyperplasia, Hypera... ORPHA:369929
Trisomy 13
Microphthalmia, Aplasia/Hypoplasia of the iris, Anophthalmia ORPHA:3378
Generalized Glucocorticoid Resistance Syndrome
Ambiguous genitalia, Abnormal circulating testosterone concentration, Infertility, Oligozoospermi... ORPHA:786
Pigmented Nodular Adrenocortical Disease, Primary, 3
Adrenal hyperplasia, Increased circulating cortisol level OMIM:614190
Hydrolethalus Syndrome 1
Adrenal gland dysgenesis, Hypospadias, Abnormal vagina morphology, Upper limb undergrowth, Access... OMIM:236680
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Ovotestis, Hypospadias, Sex reversal, Ventricular septal defect, Adrenal gland agenesis OMIM:611812
Hydatidiform Mole
Menometrorrhagia, Hyperthyroidism, Enlarged uterus ORPHA:99927
Mast Cell Sarcoma
Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly ORPHA:66661
Immunodeficiency 54
Hepatomegaly, Lymphadenopathy, Adrenocorticotropic hormone excess, Splenomegaly, Adrenal insuffic... OMIM:609981
Familial Hyperaldosteronism Type Iii
Hypercalciuria, Abnormal circulating renin, Glucocortocoid-insensitive primary hyperaldosteronism... ORPHA:251274
Familial Hyperaldosteronism Type I
Adrenal hyperplasia, Abnormal circulating renin, Dexamethasone-suppressible primary hyperaldoster... ORPHA:403
Familial Hyperaldosteronism Type Ii
Adrenal hyperplasia, Abnormal circulating renin, Secretory adrenocortical adenoma, Glucocortocoid... ORPHA:404
Congenital Alveolar Capillary Dysplasia
Bicuspid aortic valve, Annular pancreas, Pulmonary valve atresia, Atrioventricular canal defect, ... ORPHA:210122
Campomelia, Cumming Type
Polycystic kidney dysplasia, Bowing of the long bones, Polycystic liver disease, Pancreatic cysts... OMIM:211890
Woodhouse-Sakati Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, Hypoplasia of the uterus,... ORPHA:3464
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Hypospadias, Abnormal vagina morphology, Nephropathy, Cryptorchidism, Abnormality of the uterus, ... OMIM:194072
Woodhouse-Sakati Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Premature ovarian insufficiency, ... OMIM:241080
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Unilateral renal agenesis, Polycystic kidney dysplasia, Vesicoureteral reflux... ORPHA:2237
Hydrolethalus
Microphthalmia, Anophthalmia ORPHA:2189
Solitary Median Maxillary Central Incisor
Microphthalmia, Anophthalmia OMIM:147250
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Hepatosplenomegaly, Lymphadenopathy, Clubbing of fingers OMIM:618982
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Hematuria, Hypoparathyroidism, Aplasia of the vagina, Aplasia of the uterus, Nephrotic syndrome, ... OMIM:146255
Autoimmune Lymphoproliferative Syndrome, Type Iii
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Nephrotic syndrome, Hepatosplenomegal... OMIM:615559
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Anophthalmia ORPHA:139471
Cerebrooculonasal Syndrome
Anophthalmia ORPHA:66625
Wolfram Syndrome 1
Hydroureter, Diabetes insipidus, Neurogenic bladder, Cardiomyopathy, Hypothyroidism, Hydronephros... OMIM:222300
Acth-Independent Macronodular Adrenal Hyperplasia
Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Adrenal hyperplasia, ... OMIM:219080
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Ulnar deviation of the 3rd finger, Delayed puberty, Abnormal liver parenchyma morphology, Hyperec... ORPHA:456312
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Toe syndactyly, Clinodactyly of the 5th finger, Testicular atrophy, Syndactyly OMIM:601163
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Microphthalmia, Anophthalmia ORPHA:77298
Congenital Toxoplasmosis
Cardiomegaly, Jaundice, Lymphadenopathy, Hepatomegaly ORPHA:858
Popliteal Pterygium Syndrome
Bifid scrotum, Cutaneous finger syndactyly, Hypoplasia of the vagina, Small scrotum, Cryptorchidi... OMIM:119500
Dextrocardia
Situs inversus totalis, Dextrocardia, Pancreatic hypoplasia, Abnormal rib morphology, Congenital ... ORPHA:1666
Alpha-Heavy Chain Disease
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:100025
Igg4-Related Submandibular Gland Disease
Enlarged lacrimal glands, Abnormal salivary gland morphology, Prostatitis, Abnormal pancreas morp... ORPHA:449432
Tetraamelia Syndrome 1
Absent external genitalia, Hypoplasia of the fallopian tube, Hypoplastic pelvis, Asplenia, Vagina... OMIM:273395
Hemophagocytic Lymphohistiocytosis, Familial, 4
Lymphadenopathy, Jaundice, Splenomegaly, Hepatomegaly OMIM:603552
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Decreased fertility, Testicular atrophy OMIM:313200
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Clitoral hypertrophy, Abnormal ovarian physi... ORPHA:90794
Hyperaldosteronism, Familial, Type Iii
Polyuria, Hypercalciuria, Decreased circulating renin level, Adrenal hyperplasia, Hyperaldosteronism OMIM:613677
Lig4 Syndrome
Hepatomegaly, Clinodactyly of the 5th finger, Lymphadenopathy, Hypoplasia of penis, Hypothyroidis... ORPHA:99812
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Delayed puberty, Decreased response to growth hormone stimulation test, Short distal phalanx of f... OMIM:615866
Thrombocytopenia-Absent Radius Syndrome
Ureteral duplication, Aplasia of the uterus, Femoral bowing, Broad thumb, Bilateral radial aplasi... OMIM:274000
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Lymphadenopathy OMIM:618261
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Rocker bottom foot, Decreased circulating androstenedione concentration, Clitoral hypertrophy, De... OMIM:201750
Lumbar Syndrome
Hypospadias, Vesicoureteral reflux, Bifid scrotum, Bifid uterus, Bladder exstrophy, Ambiguous gen... ORPHA:83628
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia OMIM:248450
Immunodeficiency 64 With Lymphoproliferation
Mediastinal lymphadenopathy, Lymphadenopathy, Clubbing of fingers, Hepatosplenomegaly, Splenomega... OMIM:618534
Pigmented Nodular Adrenocortical Disease, Primary, 4
Adrenal hyperplasia, Diabetes mellitus, Primary hypercortisolism, Increased circulating cortisol ... OMIM:615830
Thyroid Lymphoma
Lymphadenopathy, Hypothyroidism, Hashimoto thyroiditis, Hyperthyroidism, Goiter ORPHA:97285
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Lymphadenopathy OMIM:619220
Vacterl/Vater Association
Abnormality of the gallbladder, Abnormality of the pancreas, Ectopic kidney, Hypospadias, Hypopla... ORPHA:887
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Lymphadenopathy, Splenomegaly OMIM:615513
Lymphatic Filariasis
Lymphangiectasis, Hematuria, Lymphadenopathy, Urethral obstruction, Abnormality of the lymphatic ... ORPHA:2035
Medullary Thyroid Carcinoma
Abnormal liver parenchyma morphology, Lymphadenopathy, Pheochromocytoma, Primary hyperparathyroid... ORPHA:1332
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Lymphadenopathy, Thyroiditis, Splenomegaly, Glomerulonephritis OMIM:619375
Acquired Hypertrichosis Lanuginosa
Ovarian neoplasm, Lymphadenopathy ORPHA:2221
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Atrial septal defect, Disproportionate shortening of the tibia, Postaxial polysyndactyly of foot,... OMIM:263520
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Kaposiform Lymphangiomatosis
Abnormal ischium morphology, Enlarged kidney, Abnormal femur morphology, Abnormality of the lymph... ORPHA:464329
Poems Syndrome
Hepatomegaly, Erectile dysfunction, Metaphyseal sclerosis, Lymphadenopathy, Clubbing of fingers, ... ORPHA:2905
Meckel Syndrome
Situs inversus totalis, Ureteral duplication, Accessory spleen, Pancreatic cysts, Postaxial hand ... ORPHA:564
Microphthalmia With Limb Anomalies
Microphthalmia, Anophthalmia OMIM:206920
Aarskog-Scott Syndrome
Delayed puberty, Radial deviation of finger, Hyperextensibility of the finger joints, Short 5th f... OMIM:305400
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly OMIM:300853
Linear Skin Defects With Multiple Congenital Anomalies 1
Clitoral hypertrophy, Hypospadias, Ovotestis, Histiocytoid cardiomyopathy, Chordee, Micropenis, O... OMIM:309801
Immunodeficiency, Common Variable, 2
Follicular hyperplasia, Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:240500
Pfapa Syndrome
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:42642
Feingold Syndrome
Annular pancreas, Clinodactyly of the 5th finger, Deviation of the 2nd finger, Abnormality of the... ORPHA:1305
Immunodeficiency 27A
Lymphadenopathy, Hypoplasia of the femoral head, Hepatosplenomegaly, Splenomegaly, Enlarged mesen... OMIM:209950
Martinez-Frias Syndrome
Annular pancreas, Hypoplasia of the gallbladder, Hypospadias, Pancreatic hypoplasia, Extrahepatic... OMIM:601346
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Acute kidney injury, Absent vas deferens, Abnormality of endocrine pancreas physiology, Aplasia/H... ORPHA:93111
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Irregular menstruation, Decreased circulating ACTH concentration, Macronodular adrenal hyperplasi... ORPHA:189427
Meckel Syndrome, Type 7
Situs inversus totalis, Atrial septal defect, Multicystic kidney dysplasia, Cholestasis, Biliary ... OMIM:267010
Immunodeficiency 76
Lymphadenopathy, Splenomegaly OMIM:619164
Cockayne Syndrome Type 2
Anophthalmia ORPHA:90322
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Macronodular adrenal hyperplasia, Decreased circulating ACTH co... OMIM:615954
Familial Pancreatic Carcinoma
Jaundice, Lymphadenopathy, Neoplasm of the liver, Peritoneal abscess, Hepatosplenomegaly, Exocrin... ORPHA:1333
Fryns Syndrome
Rocker bottom foot, Ureteral duplication, Hypospadias, Proximal placement of thumb, Thin ribs, Pr... OMIM:229850
Dyskeratosis Congenita, Autosomal Recessive 2
Bone marrow hypocellularity, Cirrhosis, Testicular atrophy OMIM:613987
Walker-Warburg Syndrome
Microphthalmia, Anophthalmia ORPHA:899
Fanconi Anemia, Complementation Group D2
Annular pancreas, Ectopic kidney, Pelvic kidney, Hypergonadotropic hypogonadism, Aplasia of the 1... OMIM:227646
Oeis Complex
Epispadias, Ambiguous genitalia, male, Hydroureter, 11 pairs of ribs, Rectovaginal fistula, Vesic... OMIM:258040
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Female infertility, Amenorrhea, Increased circulating gonadotrop... OMIM:110100
Trisomy 1Q
Anophthalmia ORPHA:261344
Primary Unilateral Adrenal Hyperplasia
Adrenal hyperplasia, Decreased circulating renin level, Increased urinary potassium, Glucocortoco... ORPHA:231580
Pleural Mesothelioma
Hepatomegaly, Lymphadenopathy ORPHA:50251
Classic Mycosis Fungoides
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:2584
Omenn Syndrome
Abnormal metaphysis morphology, Hepatomegaly, Lymphadenopathy, Thyroiditis, Nephrotic syndrome, H... ORPHA:39041
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Aplasia of the vagina, Thin ribs, Aplasia of the uterus, Short ribs, Missing ribs, Rib fusion, Hy... OMIM:271520
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Lymphadenopathy, Hepatosplenomegaly, Splenomegaly OMIM:613101
Trisomy 8P
Clinodactyly of the 5th toe, Clinodactyly of the 2nd finger, Nephrocalcinosis, Overlapping toe, S... ORPHA:264450
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Delayed puberty, Hepatomegaly, Proximal placement of thumb, Ulnar deviation of the 2nd finger, Hy... OMIM:616263
Meckel Syndrome 14
Polycystic kidney dysplasia, Aplasia of the uterus, Postaxial hand polydactyly, Bowing of the lon... OMIM:619879
Leukocyte Adhesion Deficiency, Type Iii
Abnormal lymph node morphology, Hepatomegaly, Hepatosplenomegaly, Splenomegaly OMIM:612840
Schnitzler Syndrome
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:37748
Phocomelia, Schinzel Type
Hypoplasia of the radius, Fibular aplasia, Aplasia of the ulna, Abnormal tibia morphology, Hypopl... ORPHA:2879
Pagod Syndrome
Situs inversus totalis, Abnormal testis morphology, Abnormal rib morphology, Female pseudohermaph... ORPHA:991
Activated Pi3K-Delta Syndrome
Lymphadenopathy, Hepatomegaly, Splenomegaly, Recurrent tonsillitis ORPHA:397596
Anaplastic Thyroid Carcinoma
Anaplastic thyroid carcinoma, Goiter, Nodular goiter, Lymphadenopathy ORPHA:142
Caspase 8 Deficiency
Lymphadenopathy, Splenomegaly OMIM:607271
Nephronophthisis 13
Nephronophthisis, Glomerular sclerosis, Intrahepatic bile duct dilatation, Renal hypoplasia, Glob... OMIM:614377
Classic Hodgkin Lymphoma
Bone marrow hypocellularity, Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:391
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Myotonic Dystrophy 1
Testicular atrophy, Cholelithiasis, Hypogonadism OMIM:160900
Legionnaires Disease
Myocarditis, Jaundice, Hematuria, Pancreatitis, Lymphadenopathy, Hepatitis, Bone marrow hypocellu... ORPHA:549
Igg4-Related Thyroid Disease
Euthyroid goiter, Sclerosing cholangitis, Sialadenitis, Thyroiditis, Abnormal pituitary gland mor... ORPHA:64744
Cold Agglutinin Disease
Lymphadenopathy, Abnormal urinary color, Splenomegaly, Hepatomegaly ORPHA:56425
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Decreased fertility, Premature ovarian insufficiency, Lacrimal gland aplasia, Decreased circulati... ORPHA:572333
Immunodeficiency 52
Lymphadenopathy, Splenomegaly OMIM:617514
Heme Oxygenase 1 Deficiency
Hepatomegaly, Hematuria, Lymphadenopathy, Asplenia, Nephritis, Proteinuria, Cervical lymphadenopathy OMIM:614034
Beckwith-Wiedemann Syndrome
Enlarged kidney, Ureteral duplication, Multiple renal cysts, Splenomegaly, Cardiomegaly, Abnormal... ORPHA:116
Chromosome 17Q12 Deletion Syndrome
Unilateral renal agenesis, Aplasia of the vagina, Long toe, Upper limb undergrowth, Aplasia of th... OMIM:614527
Rosaï-Dorfman Disease
Lymphadenopathy ORPHA:158014
1P36 Deletion Syndrome
Abnormal female external genitalia morphology, Hypoplasia of penis, Hypogonadism, Hepatic steatos... ORPHA:1606
H Syndrome
Delayed puberty, Enlarged kidney, Lymphadenopathy, Azoospermia, Camptodactyly, Decreased testicul... ORPHA:168569
Pseudomyxoma Peritonei
Lymphadenopathy, Abnormal peritoneum morphology ORPHA:26790
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center OMIM:606843
Acrocephalopolydactylous Dysplasia
Enlarged kidney, Hepatomegaly, Postaxial hand polydactyly, Polysplenia, Hepatic fibrosis, Pancrea... OMIM:200995
Fish-Eye Disease
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:79292
Jacobsen Syndrome
Annular pancreas, Clinodactyly of the 5th finger, Hypospadias, Labial hypoplasia, Ventricular sep... OMIM:147791
Atelosteogenesis Type I
Abnormal fibula morphology, Abnormal pancreatic duct morphology, Short long bone, Multiple renal ... ORPHA:1190
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Hepatomegaly, Periportal fibrosis, Tubulointerstitial fibrosis, Polycystic kidne... OMIM:263200
Campomelia, Cumming Type
Hepatomegaly, Multicystic kidney dysplasia, Bowing of the long bones, Abnormal rib morphology, Mu... ORPHA:1318
Glycogen Storage Disease Ib
Delayed puberty, Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rat... OMIM:232220
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:618495
Indolent Systemic Mastocytosis
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:98848
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microphthalmia, Anophthalmia OMIM:615877
Immunodeficiency 109 With Lymphoproliferation
Generalized lymphadenopathy, Splenomegaly OMIM:620282
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Pulmonary valve atresia, Annular pancreas, Atrioventricular canal defect, Hydroureter, Hypospadia... OMIM:265380
Familial Cold Autoinflammatory Syndrome 2
Lymphadenopathy, Splenomegaly OMIM:611762
Systemic-Onset Juvenile Idiopathic Arthritis
Lymphadenopathy, Hepatomegaly, Splenomegaly, Pericarditis ORPHA:85414
Schinzel-Giedion Midface Retraction Syndrome
Tibial bowing, Ureteral stenosis, Short distal phalanx of finger, Small scrotum, Increased densit... OMIM:269150
Immunodeficiency, Common Variable, 1
Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:607594
Pancreatoblastoma
Jaundice, Abnormal lymph node morphology, Pancreatic calcification ORPHA:677
Immunodeficiency 32A
Lymphadenitis, Lymphadenopathy OMIM:614893
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplasia/hypoplasia of the femur, Carpal bone aplasia, Aplasia/Hypoplasia of the phalanges of the ... OMIM:276820
Rhabdoid Tumor
Neoplasm of the liver, Hematuria, Lymphadenopathy ORPHA:69077
Jacobsen Syndrome
Annular pancreas, Finger syndactyly, Ventricular septal defect, Missing ribs, Toe clinodactyly, B... ORPHA:2308
Cushing Syndrome Due To Ectopic Acth Secretion
Pheochromocytoma, Adrenal hyperplasia, Pulmonary carcinoid tumor, Medullary thyroid carcinoma, In... ORPHA:99889
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Hemolytic-uremic syndrome, Lymphadenopathy, Nephrotic syndrome, Hepatosplenomegaly,... OMIM:619644
Hypocomplementemic Urticarial Vasculitis
Hepatomegaly, Hematuria, Lymphadenopathy, Abnormal heart valve morphology, Pericardial effusion, ... ORPHA:36412
Bohring-Opitz Syndrome
Hyperechogenic pancreas, Dislocated radial head, Vesicoureteral reflux, Camptodactyly, Short toe,... OMIM:605039
Exstrophy-Epispadias Complex
Penoscrotal transposition, Epispadias, Urinary incontinence, Bifid penis, Vesicoureteral reflux, ... ORPHA:322
Immunodeficiency 105
Absence of lymph node germinal center, Hepatosplenomegaly OMIM:619924
Bone Marrow Failure Syndrome 3
Hyperechogenic pancreas, Congenital hip dislocation, Bone marrow hypocellularity, Metaphyseal dys... OMIM:617052
American Trypanosomiasis
Myocarditis, Hepatomegaly, Lymphadenopathy, Cardiomyopathy, Splenomegaly ORPHA:3386
Papa Syndrome
Lymphadenopathy, Type I diabetes mellitus, Proteinuria ORPHA:69126
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Hypothyroidism, Hepatosplenomegaly, Lymphadenopathy OMIM:619750
17Q12 Microdeletion Syndrome
Renal insufficiency, Pancreatic aplasia, Ureterocele, Diabetes mellitus, Shawl scrotum, Cryptorch... ORPHA:261265
Bent Bone Dysplasia Syndrome 2
Hepatomegaly, Short 1st metacarpal, Ulnar bowing, Bowed humerus, Hypoplastic iliac wing, Hypoplas... OMIM:620076
Townes-Brocks Syndrome 1
Clinodactyly of the 5th toe, Bifid scrotum, Broad thumb, Urethral valve, Aplasia/Hypoplasia of th... OMIM:107480
Tularemia
Abnormal nasopharyngeal adenoid morphology, Cervical lymphadenopathy, Mediastinal lymphadenopathy... ORPHA:3392
Griscelli Syndrome Type 2
Lymphadenopathy, Jaundice, Splenomegaly, Hepatomegaly ORPHA:79477
Peters-Plus Syndrome
Bilobate gallbladder, Square pelvis bone, Ureteral duplication, Proximal placement of thumb, Shor... OMIM:261540
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Hematuria, Decreased glomerular filtration rate, Calcium oxalate nephrolithiasis... ORPHA:730
Immunodeficiency 103, Susceptibility To Fungal Infections
Lymphadenopathy OMIM:212050
Duodenal Atresia
Annular pancreas, Abnormality of the pancreas ORPHA:1203
Ras-Associated Autoimmune Leukoproliferative Disorder
Follicular hyperplasia, Hepatomegaly, Splenomegaly OMIM:614470
Carcinoid Syndrome
Chronic noninfectious lymphadenopathy, Small intestine carcinoid, Pulmonary carcinoid tumor, Carc... ORPHA:100093
Peters Plus Syndrome
Ureteral duplication, Hypoplasia of the uterus, Hypospadias, Anterior hypopituitarism, Clinodacty... ORPHA:709
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Lymphadenopathy, Recurrent tonsillitis, Acute pancreatitis, Lymphadenitis, Nephrotic syndrome, He... OMIM:618935
Cockayne Syndrome Type 1
Anophthalmia ORPHA:90321
Lymphoproliferative Syndrome 2
Lymphadenopathy, Hepatomegaly, Hepatosplenomegaly, Splenomegaly OMIM:615122
Spondyloepimetaphyseal Dysplasia, Krakow Type
Decreased serum insulin-like growth factor 1, Annular pancreas, Delayed pubic bone ossification, ... OMIM:618162
Autoimmune Lymphoproliferative Syndrome, Type Iia
Hepatomegaly, Lymphadenopathy, Chronic noninfectious lymphadenopathy, Nephrotic syndrome, Nephrit... OMIM:603909
Alveolar Echinococcosis
Abnormal adrenal morphology, Jaundice, Liver abscess, Cholangitis, Abnormal spleen morphology, Bi... ORPHA:284
Distal Deletion 12Q
Annular pancreas, Maturity-onset diabetes of the young, Clinodactyly of the 5th finger, Ectopic k... ORPHA:96149
Middle Ear Neuroendocrine Tumor
Carcinoid tumor, Chronic noninfectious lymphadenopathy, Neuroendocrine neoplasm ORPHA:100084
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Aplasia/Hypoplasia of the pancreas, Neonatal insulin-dependent diabetes mellitus ORPHA:65288
Castleman Disease
Jaundice, Hematuria, Mediastinal lymphadenopathy, Lymphadenopathy, Restrictive cardiomyopathy, Ur... ORPHA:160
Scrub Typhus
Myocarditis, Lymphadenopathy, Renal insufficiency, Splenomegaly ORPHA:83317
Senior-Loken Syndrome 8
Polydactyly, Nephronophthisis, Intrahepatic bile duct dilatation, Global glomerulosclerosis, Hepa... OMIM:616307
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Follicular hyperplasia, Lymphadenopathy OMIM:619846
Shwachman-Diamond Syndrome 2
Hyperechogenic pancreas, Hepatomegaly, Anterior rib cupping, Metaphyseal widening, Exocrine pancr... OMIM:617941
Tropical Pancreatitis
Jaundice, Maternal diabetes, Abnormal pancreatic duct morphology, Pancreatic calcification, Pancr... ORPHA:103918
Microphthalmia, Syndromic 3
Optic nerve hypoplasia, Microphthalmia, Optic nerve aplasia, Anophthalmia OMIM:206900
Immunodeficiency 7
Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:615387
Igg4-Related Kidney Disease
Enlarged kidney, Sclerosing cholangitis, Pericarditis, Cholecystitis, Urinary bladder inflammatio... ORPHA:449395
Intellectual Developmental Disorder, X-Linked 112
Ectopic kidney, Hypospadias, Horseshoe kidney, Enuresis nocturna, Vesicoureteral reflux, Enuresis... OMIM:301111
Pearson Syndrome
Cardiomyopathy, Bone marrow hypocellularity, Abnormal heart morphology, Splenomegaly, Pancreatic ... ORPHA:699
Coccidioidomycosis
Abnormality of the female genitalia, Abnormal long bone morphology, Abnormal metacarpal morpholog... ORPHA:228123
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absent tonsils, Absence of lymph node germinal center ORPHA:277
Townes-Brocks Syndrome 2
Hypospadias, Rectovaginal fistula, Vesicoureteral reflux, Bifid uterus, Crossed fused renal ectopia OMIM:617466
Lesch-Nyhan Syndrome
Nephrolithiasis, Nephrocalcinosis, Hyperuricosuria, Testicular atrophy, Hip dislocation OMIM:300322
Nephroblastoma
Neoplasm of the liver, Hematuria, Lymphadenopathy ORPHA:654
Vacterl With Hydrocephalus
Microphthalmia, Anophthalmia ORPHA:3412
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Aniridia, Anophthalmia ORPHA:1101
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Absent tonsils, Jaundice, Lymph node hypoplasia, Hepatomegaly ORPHA:276
Bronchial Neuroendocrine Tumor
Hepatomegaly, Chronic noninfectious lymphadenopathy, Pulmonary carcinoid tumor, Elevated circulat... ORPHA:97287
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Lymphadenopathy, Splenomegaly OMIM:150550
Immunodeficiency With Hyper-Igm, Type 4
Absence of lymph node germinal center OMIM:608184
Agammaglobulinemia, X-Linked
Prostatitis, Hepatocellular carcinoma, Enteroviral hepatitis, Lymph node hypoplasia, Epididymitis... OMIM:300755
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Microphthalmia, Anophthalmia ORPHA:2250
Combined Immunodeficiency Due To Zap70 Deficiency
Abnormal lymph node morphology, Lymphadenopathy, Lymphadenitis, Nephrotic syndrome, Hepatosplenom... ORPHA:911
Griscelli Syndrome
Jaundice, Hepatomegaly, Lymphadenopathy, Bone marrow hypocellularity, Splenomegaly, Hepatitis ORPHA:381
Leishmaniasis
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:507
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:3226
Bone Marrow Failure Syndrome 5
Testicular atrophy, Hypogonadism OMIM:618165
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Elevated circulating thyroid-stimulating hormone concentration, Hepatomegaly, Splenic cyst, Polyc... OMIM:610199
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy OMIM:618987
Pancreatitis, Hereditary
Pancreatic pseudocyst, Pancreatitis, Exocrine pancreatic insufficiency, Pancreatic calcification,... OMIM:167800
Mitchell-Riley Syndrome
Annular pancreas, Biliary atresia, Acholic stools, Pancreatic hypoplasia, Cholestasis, Absent gal... OMIM:615710
Niemann-Pick Disease, Type A
Prolonged neonatal jaundice, Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:257200
Neuroendocrine Tumor Of The Colon
Hepatomegaly, Chronic noninfectious lymphadenopathy, Carcinoid tumor, Atypical pulmonary carcinoi... ORPHA:100080
Klatskin Tumor
Jaundice, Hepatomegaly, Lymphadenopathy, Cholangiocarcinoma, Extrahepatic cholestasis ORPHA:99978
Adult-Onset Still Disease
Myocarditis, Hepatomegaly, Lymphadenopathy, Bone marrow hypocellularity, Pericarditis, Splenomega... ORPHA:829
Malakoplakia
Prostate neoplasm, Hematuria, Dysuria, Urinary hesitancy, Urinary urgency, Proteinuria, Orchitis,... ORPHA:556
Doors Syndrome
Aplasia/Hypoplasia of the phalanges of the 2nd toe, Clinodactyly of the 5th finger, 11 pairs of r... ORPHA:79500
Fibular Hemimelia
Anophthalmia ORPHA:93323
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Lymphadenopathy, Thyroiditis, Hepatitis, Nephrotic syndrome, Renal insufficiency, Tu... ORPHA:139402
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Lymphadenopathy, Vesicoureteral reflux, Cholestasis, Lymphadenitis, Cardiomyopathy,... OMIM:615895
Lymphangioleiomyomatosis
Hematuria, Lymphadenopathy, Chylopericardium, Abnormality of the lymphatic system, Abnormal morph... ORPHA:538
Boutonneuse Fever
Cervical lymphadenopathy, Renal insufficiency, Lymphadenopathy ORPHA:83313
Autoimmune Lymphoproliferative Syndrome
Chronic noninfectious lymphadenopathy, Hepatomegaly, Splenomegaly, Follicular hyperplasia OMIM:601859
Tafro Syndrome
Hepatomegaly, Lymphadenopathy, Hepatosplenomegaly, Splenomegaly, Elevated vascular endothelial gr... ORPHA:457077
Lymphoproliferative Syndrome, X-Linked, 1
Lymphadenopathy, Fulminant hepatitis, Hepatomegaly, Splenomegaly OMIM:308240
Feingold Syndrome 1
Annular pancreas, Tricuspid atresia, Accessory spleen, 2-3 toe syndactyly, Tricuspid stenosis, 4-... OMIM:164280
Primary Myelofibrosis
Hepatomegaly, Lymphadenopathy, Portal hypertension, Hepatosplenomegaly, Splenomegaly ORPHA:824
Cinca Syndrome
Hepatosplenomegaly, Lymphadenopathy OMIM:607115
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Hypoplasia of right ventricle, Ureteral duplication, Neonatal insulin-dependent diabetes mellitus... ORPHA:2255
Sézary Syndrome
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:3162
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Lymphadenopathy, Hypothyroidism, Type I diabetes mellitus, Hepatitis, Glomerulonephritis OMIM:304790
Limb-Mammary Syndrome
Clinodactyly of the 5th finger, Breast aplasia, Aplasia of the uterus, Hypoplastic nipples, Absen... ORPHA:69085
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Hypopituitarism, Absent peripheral lymph nodes in presence of infection ORPHA:98813
Holoprosencephaly
Microphthalmia, Anophthalmia ORPHA:2162
Annular Pancreas
Annular pancreas ORPHA:675
Pancreas, Annular
Annular pancreas OMIM:167750
Purine Nucleoside Phosphorylase Deficiency
Elevated urinary inosine level, Decreased urinary urate, Elevated urinary guanosine level, Lymph ... OMIM:613179
Proteasome-Associated Autoinflammatory Syndrome 2
Lymphadenopathy, Clinodactyly, Brachydactyly OMIM:618048
Immune Dysregulation, Autoimmunity, And Autoinflammation
Cervical lymphadenopathy, Inguinal lymphadenopathy OMIM:620514
Lymphoproliferative Syndrome 1
Pericardial effusion, Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:613011
Pulmonary Non-Tuberculous Mycobacterial Infection
Pericardial effusion, Lymphadenopathy ORPHA:411703
Cerebrooculonasal Syndrome
Optic nerve hypoplasia, Anophthalmia OMIM:605627
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Rocker bottom foot, Annular pancreas, Clinodactyly of the 5th finger, Congenital bilateral hip di... ORPHA:488642
Cinca Syndrome
Lymphadenopathy, Hepatomegaly, Splenomegaly, Brachydactyly ORPHA:1451
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Annular pancreas, Clinodactyly of the 5th finger, Hypospadias, Patent foramen ovale, Vesicoureter... OMIM:616975
Diffuse Cutaneous Mastocytosis
Abnormality of the liver, Lymphadenopathy, Hepatomegaly, Abnormality of the spleen ORPHA:79456
Q Fever
Myocarditis, Hepatomegaly, Hematuria, Lymphadenopathy, Abnormal heart valve morphology, Pericardi... ORPHA:781
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Cholestatic liver disease, Cirrhosis, Hepatomegaly, Lymphadenopathy, Accessory spleen, Microvesic... OMIM:619418
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Lymphadenopathy, Bone marrow hypocellularity, Splenomegaly, Type I diabetes mellitus OMIM:301078
Multiple Endocrine Neoplasia Type 2
Elevated circulating parathyroid hormone level, Elevated urinary catecholamine level, Elevated ur... ORPHA:653
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Lymphadenopathy, Abnormal sacroiliac joint morphology, Pericarditis, Splenomegaly, Orchitis, Peri... ORPHA:32960
Wolf-Hirschhorn Syndrome
Hypospadias, Short hallux, Accessory spleen, Aplasia of the uterus, Split hand, Ventricular septa... OMIM:194190
Familial Mediterranean Fever
Pancreatitis, Lymphadenopathy, Nephrotic syndrome, Pericarditis, Nephrocalcinosis, Orchitis, Prot... ORPHA:342
Immunodeficiency, Common Variable, 8, With Autoimmunity
Lymphadenopathy, Clubbing of fingers, Thyroiditis, Hypothyroidism, Splenomegaly, Type I diabetes ... OMIM:614700
Felty Syndrome
Hepatomegaly, Lymphadenopathy, Bone marrow hypocellularity, Pericarditis, Splenomegaly ORPHA:47612
Schinzel-Giedion Syndrome
Annular pancreas, Hypospadias, Hypoplastic pubic bone, Tibial bowing, Nephrolithiasis, Renal cyst... ORPHA:798
Mixed Connective Tissue Disease
Myocarditis, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Pericarditis, Splenomega... ORPHA:809
Vaginal Atresia
Transverse vaginal septum, Vaginal hematocele, Imperforate hymen, Bicornuate uterus, Cervicitis, ... ORPHA:65681
Fanconi Anemia, Complementation Group L
Unilateral renal agenesis, Aplasia of the uterus, Renal hypoplasia, Bone marrow hypocellularity, ... OMIM:614083
Carney Triad
Mediastinal lymphadenopathy, Lymphadenopathy, Adrenocortical adenoma, Pheochromocytoma, Adrenal o... ORPHA:139411
Meige Disease
Absence of lymph node germinal center, Lymph node hypoplasia ORPHA:90186
Von Hippel-Lindau Syndrome
Hepatic hemangioma, Neoplasm of the pancreas, Pheochromocytoma, Papillary cystadenoma of the epid... OMIM:193300
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Immunodeficiency 10
Nephrotic syndrome, Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:612783
Omenn Syndrome
Lymphadenopathy, Splenomegaly, Hepatomegaly, Hypoplasia of the thymus OMIM:603554
14Q22Q23 Microdeletion Syndrome
Optic nerve aplasia, Anophthalmia ORPHA:264200
Aceruloplasminemia
Elevated hepatic iron concentration, Diabetes mellitus, Abnormal pancreas morphology ORPHA:48818
Neuroendocrine Tumor Of The Rectum
Hepatomegaly, Chronic noninfectious lymphadenopathy, Carcinoid tumor, Atypical pulmonary carcinoi... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Hepatomegaly, Chronic noninfectious lymphadenopathy, Carcinoid tumor, Atypical pulmonary carcinoi... ORPHA:100082
Okamoto Syndrome
Polydactyly, Urinary incontinence, Abnormal left ventricle morphology, Primum atrial septal defec... ORPHA:2729
Microgastria-Limb Reduction Defect Syndrome
Microphthalmia, Anophthalmia ORPHA:2538
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Hepatomegaly, Lymphadenopathy, Thyroiditis, Splenomegaly, Type I diabetes mellitus ORPHA:436159
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Clinodactyly of the 5th finger, Unilateral renal agenesis, Aplasia of the vagina, Aplasia of the ... ORPHA:457284
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Lymphadenopathy, Thyroiditis, Hypothyroidism, Enlarged tonsils, Hepatosplenomegaly, Type I diabet... OMIM:606367
Immunodeficiency With Hyper-Igm, Type 1
Cirrhosis, Hepatomegaly, Sclerosing cholangitis, Chronic hepatitis, Enlarged tonsils, Splenomegal... OMIM:308230
Squamous Cell Carcinoma Of The Anal Canal
Neoplasm of the liver, Lymphadenopathy ORPHA:424019
Proteasome-Associated Autoinflammatory Syndrome 4
Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:619183
Von Hippel-Lindau Disease
Myocarditis, Elevated urinary catecholamine level, Neoplasm of the pancreas, Pancreatic endocrine... ORPHA:892
Cushing Disease
Amenorrhea, Secondary amenorrhea, Adrenal hyperplasia, Pituitary corticotropic cell adenoma, Olig... ORPHA:96253
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Microphthalmia, Anophthalmia ORPHA:2526
Rothmund-Thomson Syndrome, Type 2
Annular pancreas, Congenital hip dislocation, Short palm, Short thumb, Hypogonadism, Cryptorchidi... OMIM:268400
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Supernumerary nipple, Bifid uterus, Syndactyly, Unilateral brachydactyly, Abnormal reproductive s... ORPHA:1521
Cyclic Neutropenia
Cervical lymphadenopathy, Recurrent tonsillitis, Lymphadenopathy, Peritonitis ORPHA:2686
Neuroendocrine Neoplasm Of Appendix
Hepatomegaly, Ovarian neoplasm, Adrenocorticotropic hormone excess, Chronic noninfectious lymphad... ORPHA:100079
Aggressive Systemic Mastocytosis
Lymphadenopathy, Hepatosplenomegaly, Hypersplenism, Portal hypertension ORPHA:98850
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:616100
Familial Hemophagocytic Lymphohistiocytosis
Cholestatic liver disease, Jaundice, Hepatomegaly, Lymphadenopathy, Abnormal renal physiology, Sp... ORPHA:540
Pediatric Systemic Lupus Erythematosus
Hematuria, Lymphadenopathy, Nephrotic syndrome, Pericardial effusion, Nephritis, Dark urine, Prot... ORPHA:93552
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Ureteral duplication, Clinodactyly of the 2nd finger, Cone-shaped epiphyses of the phalanges of t... OMIM:266920
Primary Hepatic Neuroendocrine Carcinoma
Hepatomegaly, Biliary tract obstruction, Intrahepatic cholestasis with episodic jaundice, Intermi... ORPHA:100085
Immunodeficiency 97 With Autoinflammation
Lymphadenopathy, Mediastinal lymphadenopathy, Hepatosplenomegaly, Splenomegaly OMIM:619802
Pontocerebellar Hypoplasia Type 7
Gonadal dysgenesis, Clitoral hypertrophy, Abnormal scrotal rugation, Aplasia of the uterus, Micro... ORPHA:284339
Spondyloenchondrodysplasia With Immune Dysregulation
Short iliac bones, Metaphyseal sclerosis, Lymphadenopathy, Tubulointerstitial fibrosis, Hypothyro... OMIM:607944
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Jaundice, Hepatomegaly, Inappropriate antidiuretic hormone secretion, Portal hypertension, Hepato... ORPHA:79124
Hyperimmunoglobulinemia D With Periodic Fever
Hepatomegaly, Lymphadenopathy, Peritonitis ORPHA:343
Ulbright-Hodes Syndrome
Hypoplasia of the radius, Clitoral hypertrophy, Enlarged labia minora, Fibular aplasia, Maternal ... ORPHA:3404
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Secondary amenorrhea, Hypergonadotropic hypogonadism, Primary am... OMIM:157640
Joubert Syndrome 21
Anophthalmia OMIM:615636
Brucellosis
Myocarditis, Liver abscess, Hepatomegaly, Lymphadenopathy, Abnormal aortic valve morphology, Peri... ORPHA:1304
Coffin-Siris Syndrome 1
Clitoral hypertrophy, Ectopic kidney, Sandal gap, Dislocated radial head, Aplasia of the uterus, ... OMIM:135900
Carney Complex
Ductal carcinoma in situ, Neoplasm of the pancreas, Pituitary growth hormone cell adenoma, Ovaria... ORPHA:1359
Combined Immunodeficiency Due To Crac Channel Dysfunction
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:169090
Microphthalmia With Linear Skin Defects Syndrome
Microphthalmia, Anophthalmia ORPHA:2556
Gamma-Heavy Chain Disease
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:100026
Pancreatic Agenesis 2
Diabetes mellitus, Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Pancreatic aplasia OMIM:615935
X-Linked Intellectual Disability, Snyder Type
Ectopic kidney, Hypospadias, Slender toe, Abnormality of the Leydig cells, Camptodactyly, Arachno... ORPHA:3063
Macrophage Activation Syndrome
Lymphadenopathy, Hepatomegaly, Hepatitis, Splenomegaly ORPHA:158061
Acute Monoblastic/Monocytic Leukemia
Oliguria, Central hypothyroidism, Cervical lymphadenopathy ORPHA:514
Orofaciodigital Syndrome I
Polydactyly, Radial deviation of finger, Polycystic kidney dysplasia, Short 2nd toe, Abnormal hea... OMIM:311200
Mevalonic Aciduria
Fluctuating splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Fluctuating hepatomegaly, Elevated... OMIM:610377
Proteasome-Associated Autoinflammatory Syndrome 1
Elevated circulating thyroid-stimulating hormone concentration, Hepatomegaly, Flexion contracture... OMIM:256040
Neuroendocrine Tumor Of Stomach
Hepatomegaly, Chronic noninfectious lymphadenopathy, Atypical pulmonary carcinoid tumor, Carcinoi... ORPHA:100075
Pancreatic Agenesis 1
Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Pancreatic aplasia, Neonatal insulin-de... OMIM:260370
Melkersson-Rosenthal Syndrome
Oligosacchariduria, Lymphadenopathy ORPHA:2483
Kikuchi-Fujimoto Disease
Myocarditis, Hepatomegaly, Abnormal lymph node morphology, Lymphadenopathy, Splenomegaly, General... ORPHA:50918
Congenital Syphilis
Myocarditis, Pancreatitis, Lymphadenopathy, Tibial bowing, Nephrotic syndrome, Prolonged neonatal... ORPHA:499009
Pulmonary Capillary Hemangiomatosis
Pericardial effusion, Mediastinal lymphadenopathy, Lymphadenopathy, Clubbing of fingers ORPHA:199241
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Hepatomegaly, Mediastinal lymphadenopathy, Hilar lymph node enlargement, Cholestasis, Right atria... OMIM:620233
Proteasome-Associated Autoinflammatory Syndrome 3
Finger swelling, Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:617591
Ileal Neuroendocrine Tumor
Lymphadenopathy, Tricuspid stenosis, Small intestine carcinoid, Pulmonic stenosis, Hydronephrosis... ORPHA:100078
Bohring-Opitz Syndrome
Annular pancreas, Cholelithiasis, Metacarpophalangeal joint contracture, Cardiomegaly, Urinary re... ORPHA:97297
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Hepatosplenomegaly, Lymphadenopathy ORPHA:169154
Proboscis Lateralis
Optic nerve hypoplasia, Microphthalmia, Anophthalmia ORPHA:141099
Holoprosencephaly 9
Optic nerve hypoplasia, Microphthalmia, Anophthalmia OMIM:610829
Autosomal Recessive Polycystic Kidney Disease
Enlarged kidney, Cholestasis, Biliary hyperplasia, Splenomegaly, Abnormal intrahepatic bile duct ... ORPHA:731
Nephronophthisis-Like Nephropathy 1
Nephronophthisis, Chronic pancreatitis, Stage 5 chronic kidney disease, Pancreatic cysts, Renal c... OMIM:613159
Pearson Marrow-Pancreas Syndrome
Hepatomegaly, Hypercalciuria, 3-Methylglutaric aciduria, Macronodular cirrhosis, Exocrine pancrea... OMIM:557000
Cutaneous Neuroendocrine Carcinoma
Carcinoid tumor, Chronic noninfectious lymphadenopathy, Merkel cell skin cancer ORPHA:79140
Sarcoidosis
Enlarged lacrimal glands, Abnormality of the adrenal glands, Hepatomegaly, Abnormal liver parench... ORPHA:797
Hemophagocytic Lymphohistiocytosis, Familial, 1
Lymphadenopathy, Jaundice, Splenomegaly, Hepatomegaly OMIM:267700
Farber Disease
Short finger, Lymphadenopathy, Intrahepatic cholestasis with episodic jaundice, Short toe, Hepato... ORPHA:333
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Lymphadenopathy, Abnormality of the endocrine system, Thyroiditis, Hepatitis, Nephrotic syndrome,... ORPHA:37042
Hennekam Syndrome
Ectopic kidney, Lymphadenopathy, Finger syndactyly, Camptodactyly of finger, Pericardial effusion... ORPHA:2136
Hemophagocytic Lymphohistiocytosis, Familial, 2
Jaundice, Hepatomegaly, Lymphadenopathy, Hepatosplenomegaly, Splenomegaly OMIM:603553
Charge Syndrome
Microphthalmia, Anophthalmia ORPHA:138
Fraser Syndrome 1
Bilateral microphthalmos, Anophthalmia OMIM:219000
Gallbladder Neuroendocrine Tumor
Biliary tract obstruction, Intermittent jaundice, Chronic noninfectious lymphadenopathy, Biliary ... ORPHA:100086
Acute Interstitial Pneumonia
Pericardial effusion, Lymphadenopathy ORPHA:79126
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Acute Promyelocytic Leukemia
Metrorrhagia, Hematuria, Lymphadenopathy ORPHA:520
Behçet Disease
Pancreatitis, Lymphadenopathy, Pericarditis, Endocarditis, Splenomegaly, Orchitis, Abnormal myoca... ORPHA:117
Igg4-Related Ophthalmic Disease
Enlarged lacrimal glands, Prostatitis, Pancreatitis, Cholangitis, Lymphadenopathy, Sialadenitis, ... ORPHA:449563
Neu-Laxova Syndrome 1
Rocker bottom foot, Radial deviation of finger, Transposition of the great arteries, Finger synda... OMIM:256520
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum OMIM:140850
Microphthalmia, Syndromic 2
Microphthalmia, Anophthalmia OMIM:300166
Neuroblastoma
Elevated urinary catecholamine level, Elevated urinary vanillylmandelic acid, Lymphadenopathy, El... ORPHA:635
Hyper-Igd Syndrome
Lymphadenopathy, Lymphadenitis, Hepatosplenomegaly, Splenomegaly, Elevated urine mevalonic acid l... OMIM:260920
Crimean-Congo Hemorrhagic Fever
Myocarditis, Jaundice, Hematuria, Hepatomegaly, Lymphadenopathy, Parotitis, Inappropriate antidiu... ORPHA:99827
T-Cell Immunodeficiency With Thymic Aplasia
Lymphadenopathy, Thyroiditis, Hypothyroidism, Atypical or prolonged hepatitis, Aplasia of the thymus ORPHA:83471
Focal Dermal Hypoplasia
Microphthalmia, Aniridia, Anophthalmia OMIM:305600
Autosomal Recessive Malignant Osteopetrosis
Abnormal metaphysis morphology, Hepatomegaly, Lymphadenopathy, Bowing of the long bones, Abnormal... ORPHA:667
Graft Versus Host Disease
Jaundice, Lymphadenopathy, Acute hepatitis, Chronic hepatitis, Hepatosplenomegaly ORPHA:39812
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Hepatomegaly, Liver abscess, Lymphadenopathy, Lymphadenitis, Splenomegaly OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Hepatomegaly, Liver abscess, Lymphadenopathy, Lymphadenitis, Splenomegaly OMIM:233710
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hepatomegaly, Lymphadenopathy, Portal hypertension, Hashimoto thyroiditis, Bone marrow hypocellul... OMIM:615688
Orofaciodigital Syndrome Type 1
Tarsal synostosis, Clinodactyly of the 5th finger, Abnormality of the pancreas, Multicystic kidne... ORPHA:2750
Immunodeficiency 31C
Delayed puberty, Hepatomegaly, Lymphadenopathy, Hypothyroidism, Splenomegaly, Diabetes mellitus OMIM:614162
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Abnormal shoulder morphology, Lymphadenopathy, Abnormal metatarsal morphology, Hepatosplenomegaly... ORPHA:85408
Waldenström Macroglobulinemia
Lymphadenopathy, Hepatomegaly, Renal insufficiency, Splenomegaly ORPHA:33226
Autoimmune Lymphoproliferative Syndrome
Thyroid carcinoma, Premature ovarian insufficiency, Hepatomegaly, Lymphadenopathy, Thyroiditis, H... ORPHA:3261
Microphthalmia With Limb Anomalies
Microphthalmia, True anophthalmia ORPHA:1106
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Hepatomegaly, Liver abscess, Lymphadenopathy, Lymphadenitis, Splenomegaly OMIM:233690
Ehlers-Danlos Syndrome, Vascular Type
Osteolytic defects of the phalanges of the hand, Cervical insufficiency, Metacarpophalangeal join... OMIM:130050
Acute Generalized Exanthematous Pustulosis
Cholestasis, Renal insufficiency, Lymphadenopathy ORPHA:293173
Fraser Syndrome
Microphthalmia, Anophthalmia ORPHA:2052
Steinert Myotonic Dystrophy
Decreased response to growth hormone stimulation test, Male hypogonadism, Hyperinsulinemia, Abnor... ORPHA:273
Igg4-Related Dacryoadenitis And Sialadenitis
Enlarged lacrimal glands, Abnormal salivary gland morphology, Lymphadenopathy, Thyroiditis, Abnor... ORPHA:79078
Coffin-Lowry Syndrome
Bifid sternum, Hyperextensibility of the finger joints, Narrow iliac wing, Short metacarpal, Uter... OMIM:303600
Chediak-Higashi Syndrome
Lymphadenopathy, Jaundice, Splenomegaly, Hepatomegaly OMIM:214500
Sarcoidosis, Susceptibility To, 1
Enlarged lacrimal glands, Abnormal salivary gland morphology, Hepatomegaly, Mediastinal lymphaden... OMIM:181000
Primary Sjögren Syndrome
Vaginal dryness, Lymphadenopathy, Chronic active hepatitis, Thyroiditis, Parotitis, Biliary cirrh... ORPHA:289390
Malt Lymphoma
Mediastinal lymphadenopathy, Lymphadenopathy, Abnormality of the thyroid gland ORPHA:52417
Charge Syndrome
Microphthalmia, Unilateral microphthalmos, Anophthalmia OMIM:214800
Multiple Myeloma
Acute kidney injury, Lymphadenopathy, Nephrotic syndrome, Splenomegaly, Nephropathy ORPHA:29073
Systemic Mastocytosis With Associated Hematologic Neoplasm
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:98849
Granulomatous Disease, Chronic, X-Linked
Hepatomegaly, Liver abscess, Lymphadenopathy, Lymphadenitis, Splenomegaly OMIM:306400
Joint Contractures, Osteochondromas, And B-Cell Lymphoma
Hip contracture, Generalized lymphadenopathy OMIM:620232
Aregenerative Anemia
Bone marrow hypocellularity, Lymphadenopathy ORPHA:101096
Common Variable Immunodeficiency
Abnormality of the liver, Lymphadenopathy, Splenomegaly ORPHA:1572
Microphthalmia, Syndromic 6
Microphthalmia, Anophthalmia OMIM:607932
Blau Syndrome
Abnormal salivary gland morphology, Lymphadenopathy, Camptodactyly of finger, Pericarditis, Splen... ORPHA:90340
Selective Igm Deficiency
Lymphadenitis, Hashimoto thyroiditis, Thyroid carcinoma, Lymphadenopathy ORPHA:331235
Tangier Disease
Chronic noninfectious lymphadenopathy, Coronary artery stenosis, Orange discolored tonsils, Hepat... ORPHA:31150
Branchiooculofacial Syndrome
Microphthalmia, Anophthalmia OMIM:113620
African Trypanosomiasis
Abnormality of renin-angiotensin system, Myocarditis, Urinary incontinence, Jaundice, Hepatomegal... ORPHA:3385
Pallister-Killian Syndrome
Aplasia of the uterus, Aortic valve stenosis, Small scrotum, Hip dislocation, Aplasia of the uppe... OMIM:601803
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Lymphadenopathy OMIM:617099
Chédiak-Higashi Syndrome
Jaundice, Lymphadenopathy, Pericardial effusion, Hepatosplenomegaly, Splenomegaly ORPHA:167
Marburg Hemorrhagic Fever
Jaundice, Pancreatitis, Lymphadenopathy, Pericarditis, Orchitis, Renal insufficiency ORPHA:99826
Kawasaki Disease
Myocarditis, Cervical lymphadenopathy, Jaundice, Abnormal heart valve morphology, Double outlet r... ORPHA:2331
Craniorachischisis
Bifid sternum ORPHA:63260
Immunodeficiency 82 With Systemic Inflammation
Lymphadenopathy, Anoperineal fistula, Splenomegaly, Hepatitis, Follicular hyperplasia OMIM:619381
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Cervical lymphadenopathy, Lymphadenopathy OMIM:617718
Vascular Ehlers-Danlos Syndrome
Hypospadias, Uterine rupture, Abnormal heart valve morphology, Congenital hip dislocation, Renova... ORPHA:286
Loeys-Dietz Syndrome
Camptodactyly of finger, Arachnodactyly, Uterine rupture ORPHA:60030
Leptospirosis
Acute kidney injury, Jaundice, Hepatomegaly, Lymphadenopathy, Cellular urinary casts, Pericarditi... ORPHA:509
Immunodeficiency 55
Lymphadenopathy OMIM:617827
Norrie Disease
Delayed puberty, Erectile dysfunction, Uterine rupture, Cryptorchidism, Diabetes mellitus ORPHA:649
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Absent peripheral lymph nodes in presence of infection OMIM:600802
Craniofacial Microsomia 1
Microphthalmia, Anophthalmia OMIM:164210
Microphthalmia, Syndromic 1
Microphthalmia, Anophthalmia OMIM:309800
Systemic Lupus Erythematosus
Hematuria, Lymphadenopathy, Pyuria, Proteinuria, Lupus nephritis ORPHA:536
Adenocarcinoma Of The Anal Canal
Neoplasm of the liver, Lymphadenopathy ORPHA:424016
Chikungunya
Cervical lymphadenopathy, Lymphadenopathy ORPHA:324625

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Pgbd1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Pgbd1.

No publications found that use IMPC mice or data for Pgbd1.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Pgbd1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Pgbd1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Pgbd1em1(IMPC)Tcp Intra-exon deletion Mice, Tissue
Pgbd1tm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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