banner
Genes Phenotypes Help, News, Blog

Gene: Fads1 MGI:1923517

Log in to follow

Gene Summary

Name:
fatty acid desaturase 1
Synonyms:
0710001O03Rik,  A930006B21Rik

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
increased bone mineral content Fads1tm1.1(KOMP)Vlcg HOM Early adult 2.97×10-05
decreased total body fat amount Fads1tm1.1(KOMP)Vlcg HOM Early adult 5.96×10-05
increased circulating alkaline phosphatase level Fads1tm1.1(KOMP)Vlcg HOM Early adult 3.02×10-11
decreased body length Fads1tm1.1(KOMP)Vlcg HOM Early adult 3.87×10-05
increased circulating phosphate level Fads1tm1.1(KOMP)Vlcg HOM Early adult 8.80×10-08
improved glucose tolerance Fads1tm1.1(KOMP)Vlcg HOM   Early adult 8.98×10-05
decreased circulating cholesterol level Fads1tm1.1(KOMP)Vlcg HOM Early adult 1.52×10-07
small testis Fads1tm1.1(KOMP)Vlcg HOM Early adult 0.00
abnormal testis morphology Fads1tm1.1(KOMP)Vlcg HOM Early adult 0.00
decreased locomotor activity Fads1tm1.1(KOMP)Vlcg HOM   Early adult 6.17×10-06
decreased exploration in new environment Fads1tm1.1(KOMP)Vlcg HOM Early adult 5.22×10-05
increased kidney weight Fads1tm1.1(KOMP)Vlcg HOM Early adult 1.97×10-07
increased brain weight Fads1tm1.1(KOMP)Vlcg HOM Early adult 2.20×10-05
decreased circulating triglyceride level Fads1tm1.1(KOMP)Vlcg HOM Early adult 4.81×10-05
preweaning lethality, incomplete penetrance Fads1tm1.1(KOMP)Vlcg HOM Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Section images heterozygote 100% (2 of 2)
Cecum  Section images heterozygote 50% (1 of 2)
Cerebellum  Section images heterozygote 50% (1 of 2)
Colon  Section images heterozygote 100% (2 of 2)
Duodenum  Section images heterozygote 100% (2 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 50% (1 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Harderian gland  Section images heterozygote 50% (1 of 2)
Ileum  Section images heterozygote 100% (2 of 2)
Jejunum  Section images heterozygote 50% (1 of 2)
Liver  Section images heterozygote 50% (1 of 2)
Lung  Section images heterozygote 50% (1 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Oviduct  Section images heterozygote 50% (1 of 2)
Prostate gland  Section images heterozygote 50% (1 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Spinal cord  Section images heterozygote 100% (2 of 2)
Spleen  Section images heterozygote 50% (1 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Sublingual gland  Section images heterozygote 100% (2 of 2)
Submandibular gland  Section images heterozygote 50% (1 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Tongue  Section images heterozygote 100% (2 of 2)
Trachea  Section images heterozygote 100% (2 of 2)
Trigeminal V nerve  Section images heterozygote 100% (2 of 2)
Urinary bladder  Section images heterozygote 50% (1 of 2)
Vas deferens  Section images heterozygote 50% (1 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Blood N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Diaphragm N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 100% (2 of 2)
Lower urinary tract N/A heterozygote Not available
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote Not available
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Parotid gland N/A heterozygote 0.0% (0 of 2)
Penis N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Quadriceps N/A heterozygote 0.0% (0 of 2)
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote Not available
Small intestine N/A heterozygote 100% (2 of 2)
Stomach pyloric region N/A heterozygote Not available
Striatum N/A heterozygote Not available
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vagina N/A heterozygote Not available
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote Not available
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
blood
bone marrow
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cecum 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
chest bone
colon
diaphragm 0.0%
duodenum 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland
heart 0.0%
hindlimb 0.0%
hippocampus 0.0%
hypothalamus 0.0%
ileum 0.0%
jejunum
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
stomach pyloric region 0.0%
striatum 0.0%
sublingual gland 0.0%
submandibular gland 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
tongue 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vagina 0.0%
vas deferens Unavailable
vascular system 0.0%
vesicular gland Unavailable
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

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 Skull Lateral Orientation

11 Images

View images
Adult LacZ

LacZ Images Section

106 Images

View images
X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

View images
X-ray

XRay Images Forepaw

10 Images

View images
X-ray

XRay Images Hind Leg and Hip

10 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

10 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

10 Images

View images

Human diseases caused by Fads1 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 Fads1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hypoparathyroidism, Familial Isolated, 1
Irritability, Hypocalcemic seizures, Hypoparathyroidism, Hypocalcemia, Nephrocalcinosis, Hyperpho... OMIM:146200
Blue Diaper Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Blue urine, Increased proinsulin:... ORPHA:94086
Autoimmune Hypoparathyroidism
Irritability, Hypocalcemic seizures, Increased bone mineral density, Depression, Confusion, Hypoc... ORPHA:36913
Pseudohypoparathyroidism Type 1B
Irritability, Decreased response to growth hormone stimulation test, Low urinary cyclic AMP respo... ORPHA:94089
Pseudohypoparathyroidism, Type Ic
Elevated circulating thyroid-stimulating hormone concentration, Elevated circulating parathyroid ... OMIM:612462
Hypocalcemia, Autosomal Dominant 1
Decreased glomerular filtration rate, Hypokalemia, Hypercalciuria, Hypocalcemia, Nephrolithiasis,... OMIM:601198
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Hypotriglyceridemia, Hypocholesterolemia, Decreased circulating apolipoprotein A-I concentration,... OMIM:620058
Pseudohypoparathyroidism, Type Ia
Elevated circulating parathyroid hormone level, Low urinary cyclic AMP response to PTH administra... OMIM:103580
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility, Hypocalcemic seizures, Congenital hypoparathyroidism, Hypercalciuria, Hypocalce... ORPHA:2239
Pseudohypoparathyroidism Type 2
Elevated circulating parathyroid hormone level, Hypocalcemic seizures, Hypocalcemia, Pseudohypopa... ORPHA:94090
Pseudohypoparathyroidism, Type Ii
Pseudohypoparathyroidism, Hyperphosphatemia, Elevated circulating parathyroid hormone level, Hypo... OMIM:203330
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Decreased circulating parathyroid hormone... OMIM:618883
Pseudohypoparathyroidism, Type Ib
Elevated circulating parathyroid hormone level, Low urinary cyclic AMP response to PTH administra... OMIM:603233
Calciphylaxis
Ectopic ossification, Hyperphosphatemia, Secondary hyperparathyroidism, Cellulitis, Stage 5 chron... ORPHA:280062
Spondyloepiphyseal Dysplasia, Nishimura Type
Hypocalcemia, Hyperphosphatemia, Elevated circulating parathyroid hormone level, Delayed epiphyse... OMIM:618618
Genetic Recurrent Myoglobinuria
Hyperkalemia, Acute kidney injury, Exercise-induced myoglobinuria, Difficulty walking, Recurrent ... ORPHA:99845
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Decreased response to growth hormone stimulation test, Hypocalcemic seizures, Decreased circulati... OMIM:241410
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Subperiosteal bone formation, Increased renal tubular phosphate reabsorption, Hyperos... OMIM:211900
Dent Disease 2
Low-molecular-weight proteinuria, Hypercalciuria, Proximal tubulopathy, Elevated circulating crea... OMIM:300555
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Osteopenia, Polyuria, Elevated circulating parathyroid hormone level, Calvarial osteosclerosis, N... OMIM:617994
Malignant Hyperthermia, Susceptibility To, 2
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154275
Malignant Hyperthermia, Susceptibility To, 3
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154276
Malignant Hyperthermia, Susceptibility To, 1
Hyperkalemia, Myoglobinuria, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:145600
Pseudohypoparathyroidism Type 1C
Irritability, Decreased response to growth hormone stimulation test, Low urinary cyclic AMP respo... ORPHA:79444
Sanjad-Sakati Syndrome
Hypoparathyroidism, Congenital hypoparathyroidism, Hypoplasia of penis, Hypocalcemia, Abnormal de... ORPHA:2323
Familial Isolated Hyperparathyroidism
Osteopenia, Elevated circulating parathyroid hormone level, Hypercalciuria, Primary hyperparathyr... ORPHA:99879
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Osteopenia, Hypocholesterolemia, Hepatomegaly, Splenomegaly OMIM:610539
Pseudohypoparathyroidism Type 1A
Reduced bone mineral density, Irritability, Decreased response to growth hormone stimulation test... ORPHA:79443
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Low-molecular-weight proteinuria, Hypercalciuria, Hyposthenuria, Proximal tubulopathy, Beta 2-mic... OMIM:308990
Kennedy Disease
Abnormal circulating lipid concentration, Erectile dysfunction, Gait disturbance, Type II diabete... ORPHA:481
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level, T lymphocytopenia OMIM:242870
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Increased LDL cholesterol concentration, Impaired glucose tolerance, Osteop... OMIM:610947
Squalene Synthase Deficiency
Irritability, Hypospadias, Knee flexion contracture, Increased circulating farnesol concentration... OMIM:618156
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Hydroxyprolinemia, Hyperuricemia, Increased bone mineral density, Hypercalciuria, Inc... OMIM:239000
Acrodysostosis 1 With Or Without Hormone Resistance
Elevated circulating thyroid-stimulating hormone concentration, Elevated circulating parathyroid ... OMIM:101800
Macrophage Activation Syndrome
Hypertriglyceridemia, Anemia, Hemophagocytosis, Abnormal natural killer cell count, Increased cir... ORPHA:158061
Hypocalcemic Vitamin D-Resistant Rickets
Abnormal adipose tissue morphology, Hypocalcemia, Bone cyst, Abnormal bone structure, Nephrolithi... ORPHA:93160
Hypomagnesemia 3, Renal
Nephrocalcinosis, Macroscopic hematuria, Stage 5 chronic kidney disease, Elevated circulating cre... OMIM:248250
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hepatomegaly, Generalized lipodystrophy, Hypocalcemia, Reduced subcutaneous... OMIM:612526
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Increased circulating osteocalcin level, Reduced bone mineral density, Hypophosphatemic rickets, ... ORPHA:157215
Fanconi-Bickel Syndrome
Rickets, Osteopenia, Hypertriglyceridemia, Hepatomegaly, Fasting hypoglycemia, Generalized aminoa... ORPHA:2088
Autosomal Dominant Hypocalcemia
Reduced bone mineral density, Depression, Emotional lability, Hypercalciuria, Hypocalcemia, Hyper... ORPHA:428
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypocalciuria, Depression, Parathormone-independent increased renal tubular calc... OMIM:600740
Hypercalcemia, Infantile, 2
Polyuria, Renal phosphate wasting, Hypercalciuria, Medullary nephrocalcinosis, Nephrocalcinosis, ... OMIM:616963
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Cystinosis
Rickets, Delayed puberty, Hypokalemia, Nephropathy, Gait disturbance, Nephrogenic diabetes insipi... ORPHA:213
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Incr... OMIM:619924
Polycystic Kidney Disease 5
Enlarged kidney, Polycystic kidney dysplasia, Hepatosplenomegaly, Hyperechogenic kidneys, Reduced... OMIM:617610
Immunodeficiency 112
Decreased proportion of gamma-delta T cells, Decreased proportion of class-switched memory B cell... OMIM:620449
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Hypophosphatemic rickets, Increased bone mineral density, Hypophosphatemia, Craniosynost... OMIM:241520
Fanconi Renotubular Syndrome 2
Osteopenia, Rickets, Elevated circulating parathyroid hormone level, Decreased glomerular filtrat... OMIM:613388
Chylomicron Retention Disease
Steatorrhea, Hypotriglyceridemia, Decreased LDL cholesterol concentration, Hypoalbuminemia, Hypoc... OMIM:246700
Morbid Obesity And Spermatogenic Failure
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Azoospermia, Increased LDL cholest... OMIM:615703
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Rickets, Hepatomegaly, Hypouricemia, Glycosuria, Hyperphosphaturia, Nephrocalcinosis, Proteinuria... OMIM:616026
Peroxisome Biogenesis Disorder 3B
Steatorrhea, Hepatomegaly, Elevated urine trihydroxycholestanoic acid level, Osteoporosis, Elevat... OMIM:266510
Vitamin D-Dependent Rickets, Type 3
Osteopenia, Elevated circulating parathyroid hormone level, Hypophosphatemia, Hypocalcemia OMIM:619073
Neuroleptic Malignant Syndrome
Hyperkalemia, Acute kidney injury, Urinary incontinence, Hyperuricemia, Hypocalcemia, Myoglobinur... ORPHA:94093
Immunodeficiency 52
Abnormal natural killer cell count, Decreased circulating antibody level, T lymphocytopenia, Sple... OMIM:617514
Dent Disease 1
Rickets, Low-molecular-weight proteinuria, Renal phosphate wasting, Delayed epiphyseal ossificati... OMIM:300009
Familial Hemophagocytic Lymphohistiocytosis
Hypertriglyceridemia, Abnormal circulating cytokine concentration, Anemia, Hemophagocytosis, Incr... ORPHA:540
Fanconi Renotubular Syndrome 1
Rickets, Low-molecular-weight proteinuria, Hypokalemia, Renal tubular dysfunction, Glycosuria, Hy... OMIM:134600
Mccune-Albright Syndrome
Ovarian cyst, Hypophosphatemia, Polyostotic fibrous dysplasia, Monostotic fibrous dysplasia, Abno... ORPHA:562
Hypophosphatemic Rickets, X-Linked Recessive
Rickets, Low-molecular-weight proteinuria, Hypophosphatemic rickets, Renal phosphate wasting, Del... OMIM:300554
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Rickets, Hypophosphatemic rickets, Difficulty walking, Renal phosphate wasting, Delayed epiphysea... OMIM:241530
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Rickets, Irritability, Elevated circulating parathyroid hormone level, Hypocalcemic seizures, Dif... OMIM:264700
Maternal Uniparental Disomy Of Chromosome 4
Spastic gait, Diabetes insipidus, Depression, Neurogenic bladder, Elevated circulating creatine k... ORPHA:96180
Kenny-Caffey Syndrome, Type 2
Hypoparathyroidism, Transient hypophosphatemia, Increased bone mineral density, Hypocalcemia, Thi... OMIM:127000
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic seizures, Calvarial osteosclerosis, Congenital hypoparathyroidism, Abnormal circulat... ORPHA:93325
Hemochromatosis, Type 1
Increased circulating ferritin concentration, Hepatomegaly, Glucose intolerance, Azoospermia, Tes... OMIM:235200
H Syndrome
Hypertriglyceridemia, Abnormality of the kidney, Enlarged kidney, Delayed puberty, Azoospermia, C... ORPHA:168569
Nephronophthisis 2
Hyperkalemia, Chronic tubulointerstitial nephritis, Enlarged kidney, Nephronophthisis, Elevated c... OMIM:602088
Fanconi-Bickel Syndrome
Rickets, Hepatomegaly, Increased serum bile acid concentration, Fasting hypoglycemia, Generalized... OMIM:227810
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hepatomegaly, Neonatal death, Hypocholesterolemia, Micropenis, Hydrocele testis OMIM:618810
Fanconi Renotubular Syndrome 5
Hypophosphatemic rickets, Tubulointerstitial fibrosis, Glycosuria, Proteinuria, Hypophosphatemia,... OMIM:618913
Immunodeficiency, Common Variable, 6
Enlarged kidney, Hepatomegaly, Nephrotic range proteinuria, Mesangial Immune complex deposition, ... OMIM:613496
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Delayed puberty, Hypocholesterolemia, Decreased LDL cholesterol concentration, Decreased HDL chol... OMIM:616834
Fibrous Dysplasia Of Bone
Precocious puberty in females, Abnormality of the endocrine system, Ovarian cyst, Hypophosphatemi... ORPHA:249
Hypophosphatemic Rickets, Autosomal Dominant
Rickets, Hypophosphatemic rickets, Renal phosphate wasting, Hypophosphatemia, Osteomalacia OMIM:193100
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Osteopenia, Renal phosphate wasting, Nephrolithiasis, Osteoporosis, Hyperphosphaturia, Hypophosph... OMIM:612287
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Osteopenia, Renal phosphate wasting, Hypercalciuria, Nephrolithiasis, Osteoporosis, Hyperphosphat... OMIM:612286
Dent Disease
Tubulointerstitial fibrosis, Proximal tubulopathy, Nephrocalcinosis, Renal hypophosphatemia, Rick... ORPHA:1652
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged kidney, Enlarged polycystic ovaries, Elevated circulating growth hormone concentration, ... ORPHA:90301
Denys-Drash Syndrome
Congenital diaphragmatic hernia, Ambiguous genitalia, male, Gonadal dysgenesis, Enlarged kidney, ... OMIM:194080
Linear Verrucous Nevus Syndrome
Abnormality of the kidney, Reduced bone mineral density, Hypophosphatemia, Mental deterioration ORPHA:2611
Congenital Disorder Of Glycosylation, Type Il
Hepatomegaly, Polycystic kidney dysplasia, Splenomegaly, Lipodystrophy, Hypoalbuminemia, Hypochol... OMIM:608776
Immunodeficiency 19
T lymphocytopenia, Chronic diarrhea, Abnormal B cell morphology, Abnormal natural killer cell mor... OMIM:615617
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Ureteral duplication, Nonketotic hypoglycemia, Hyperammonemia, Cardiomegaly, Ele... OMIM:608836
Hypobetalipoproteinemia, Familial, 1
Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Decreased LDL cholest... OMIM:615558
Glycogen Storage Disease Ia
Delayed puberty, Xanthelasma, Enlarged kidney, Hepatomegaly, Decreased glomerular filtration rate... OMIM:232200
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, Decreased circulating IgG level, T lymphocytopenia OMIM:233650
Congenital Disorder Of Glycosylation, Type Ia
Osteopenia, Abnormal subcutaneous fat tissue distribution, Steatorrhea, Hepatomegaly, Premature o... OMIM:212065
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Decreased proportion of class-switched memory B cells, Increased proportion of transitional B cel... OMIM:615513
Vitamin D-Dependent Rickets, Type 2A
Rickets, Irritability, Elevated circulating parathyroid hormone level, Hypocalcemic seizures, Dif... OMIM:277440
Hyperinsulinemic Hypoglycemia, Familial, 8
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemic seizures, Hyperinsul... OMIM:620211
Potocki-Lupski Syndrome
Hypothyroidism, Abnormal renal morphology, Hypocholesterolemia OMIM:610883
Hypocalcemic Vitamin D-Dependent Rickets
Rickets, Irritability, Elevated circulating parathyroid hormone level, Hepatomegaly, Hypocalcemic... ORPHA:289157
Exercise-Induced Malignant Hyperthermia
Hyperkalemia, Acute kidney injury, Hypocalcemia, Confusion, Elevated circulating creatine kinase ... ORPHA:466650
Malignant Hyperthermia Of Anesthesia
Hyperkalemia, Acute kidney injury, Myoglobinuria, Elevated creatine kinase after exercise, Hyperp... ORPHA:423
Paternal Uniparental Disomy Of Chromosome 1
Delayed puberty, Enlarged kidney, Progressive psychomotor deterioration, Abnormal dental enamel m... ORPHA:251004
Immunodeficiency 104
Diarrhea, Splenomegaly, Gastroesophageal reflux, T lymphocytopenia OMIM:608971
Hemorrhagic Fever-Renal Syndrome
Hyperkalemia, Acute kidney injury, Hematuria, Decreased glomerular filtration rate, Acute tubuloi... ORPHA:340
Spinocerebellar Ataxia 32
Azoospermia, Infertility, Cognitive impairment, Ataxia, Testicular atrophy OMIM:613909
Pancreatic Lipase Deficiency
Steatorrhea, Hypocholesterolemia OMIM:614338
Hypertriglyceridemia 1
Hypertriglyceridemia, Hypopituitarism, Glucose intolerance, Increased VLDL cholesterol concentration OMIM:145750
Spinocerebellar Ataxia Type 32
Male infertility, Progressive cerebellar ataxia, Azoospermia, Cognitive impairment, Testicular at... ORPHA:276183
Glycogen Storage Disease Ib
Delayed puberty, Xanthelasma, Enlarged kidney, Hepatomegaly, Decreased glomerular filtration rate... OMIM:232220
Hypophosphatemic Rickets, X-Linked Dominant
Rickets, Elevated circulating parathyroid hormone level, Hypophosphatemic rickets, Renal phosphat... OMIM:307800
Immunodeficiency 76
B lymphocytopenia, Chronic diarrhea, T lymphocytopenia, Splenomegaly, Lymphopenia, Colitis OMIM:619164
Cernunnos-Xlf Deficiency
Anemia, B lymphocytopenia, Decreased circulating antibody level, T lymphocytopenia, Thrombocytope... ORPHA:169079
Aa Amyloidosis
Abnormality of the kidney, Enlarged kidney, Acute kidney injury, Hepatomegaly, Nephrotic syndrome... ORPHA:85445
Congenital Generalized Lipodystrophy
Hypertriglyceridemia, Clitoral hypertrophy, Hyperinsulinemia, Hepatomegaly, Precocious puberty in... ORPHA:528
Metaphyseal Chondrodysplasia, Jansen Type
Osteopenia, Hypoparathyroidism, Hypercalciuria, Waddling gait, Hyperphosphaturia, Hip contracture... OMIM:156400
Immunodeficiency 57 With Autoinflammation
Perianal abscess, Gastritis, Diarrhea, B lymphocytopenia, Decreased circulating antibody level, P... OMIM:618108
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Rickets, Difficulty walking, Delayed epiphyseal ossification, Hypocalcemia, Hypophosphatemia, Spa... OMIM:600081
Bile Acid Synthesis Defect, Congenital, 1
Rickets, Steatorrhea, Hepatomegaly, Splenomegaly, Conjugated hyperbilirubinemia, Hypocholesterolemia OMIM:607765
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgE, Chronic di... OMIM:300400
Hyperparathyroidism-Jaw Tumor Syndrome
Thyroid carcinoma, Elevated circulating parathyroid hormone level, Lipoma, Testicular neoplasm, H... ORPHA:99880
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Xanthelasma, Enlarged kidney, Delayed puberty, Tubulointerstitial fibrosis,... ORPHA:79259
Nephronophthisis 16
Enlarged kidney, Nephronophthisis, Polycystic kidney dysplasia, Stage 5 chronic kidney disease, R... OMIM:615382
Meckel Syndrome, Type 8
Ambiguous genitalia, Enlarged kidney, Hyperechogenic kidneys, Polycystic kidney dysplasia OMIM:613885
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Elevated circulating creatinine concentration, Hematuria, Decreased glomerular f... ORPHA:730
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Steatorrhea, Dicarboxylic aciduria, Hepatomegaly, Increased circulating free fatty acid level, Hy... OMIM:605911
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypertriglyceridemia, Impaired lymphocyte transformation with phytohemagglutinin, Diarrhea, B lym... OMIM:619313
Parathyroid Carcinoma
Parathyroid carcinoma, Thyroid carcinoma, Elevated circulating parathyroid hormone level, Lipoma,... ORPHA:143
Hypophosphatemic Rickets And Hyperparathyroidism
Rickets, Elevated circulating parathyroid hormone level, Hypophosphatemic rickets, Renal phosphat... OMIM:612089
Symptomatic Form Of Hfe-Related Hemochromatosis
Increased circulating ferritin concentration, Hepatomegaly, Abnormality of iron homeostasis, Erec... ORPHA:465508
Congenital Megacalycosis
Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph... ORPHA:93109
Hepatorenocardiac Degenerative Fibrosis
Enlarged kidney, Tubular luminal dilatation, Renal cyst, Hepatosplenomegaly, Hyperechogenic kidne... OMIM:619902
Hypophosphatemic Bone Disease
Rickets, Osteomalacia, Hypophosphatemia OMIM:146350
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Decreased helper T cell proportion, T lymphocytopenia OMIM:601705
Lipodystrophy, Familial Partial, Type 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hyperinsulinemia, Hepatomegaly, Lo... OMIM:151660
Cystinosis, Nephropathic
Delayed puberty, Generalized aminoaciduria, Primary hypothyroidism, Splenomegaly, Hypophosphatemi... OMIM:219800
Isolated Follicle Stimulating Hormone Deficiency
Delayed puberty, Azoospermia, Decreased female libido, Oligozoospermia, Testicular atrophy, Delay... ORPHA:52901
Hypogonadism, Male
Testicular atrophy, Male hypogonadism, Micropenis, Hypospadias OMIM:241100
Vulvovaginal Gingival Syndrome
Abnormality of tumor necrosis factor secretion ORPHA:83453
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, T lymphocytopenia OMIM:618806
Immunodeficiency 85 And Autoimmunity
Decreased circulating total IgM, Decreased circulating IgE, Chronic diarrhea, T lymphocytopenia, ... OMIM:619510
Autosomal Dominant Hypophosphatemic Rickets
Rickets, Hypocalcemia, Hyperphosphaturia, Hypophosphatemia, Osteomalacia ORPHA:89937
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Increased circulating antibody level, Decreased pro... ORPHA:169154
Leprechaunism
Clitoral hypertrophy, Hyperinsulinemia, Enlarged kidney, Hepatomegaly, Fasting hypoglycemia, Long... ORPHA:508
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Elevated circulating creatine kinase concentration, Decreased fertility, Testicular atrophy OMIM:313200
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Nephroblastoma, Enlarged kidney, Inguinal hernia, Umbilical hernia OMIM:618272
Alport Syndrome 3A, Autosomal Dominant
Hematuria, Azotemia, Nephrotic syndrome, Microscopic hematuria, Thickened glomerular basement mem... OMIM:104200
Alg12-Cdg
Abnormal bone ossification, Hypospadias, Abnormal adipose tissue morphology, Camptodactyly, Hypon... ORPHA:79324
Renal Dysplasia
Enlarged kidney, Renal hypoplasia/aplasia, Abnormal nephron morphology, Urinary incontinence, Ure... ORPHA:93108
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Enlarged kidney, Hepatomegaly, Splenomegaly OMIM:615285
Abetalipoproteinemia
Osteopenia, Steatorrhea, Hepatomegaly, Decreased HDL cholesterol concentration, Steppage gait, Hy... ORPHA:14
Mandibuloacral Dysplasia
Hypertriglyceridemia, Lipoatrophy, Hyperinsulinemia, Reduced intrathoracic adipose tissue, Loss o... ORPHA:2457
Infantile Nephropathic Cystinosis
Rickets, Low-molecular-weight proteinuria, Abnormality of thyroid physiology, Hypokalemia, Cognit... ORPHA:411629
Combined Oxidative Phosphorylation Deficiency 55
Stage 3 chronic kidney disease, Hypophosphatemic rickets, Proximal tubulopathy, Organic aciduria,... OMIM:619743
Adult Acute Respiratory Distress Syndrome
Abnormality of tumor necrosis factor secretion, Abnormal circulating interleukin concentration, I... ORPHA:70578
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Hyperlipidemia, Cognitive impairment, Abnormal response to corticotropin releasing hormone stimul... ORPHA:189427
Primary Fanconi Renotubular Syndrome
Generalized aminoaciduria, Abnormal urine pH, Bicarbonate-wasting renal tubular acidosis, Hypopho... ORPHA:3337
Aicardi-Goutieres Syndrome 6
Increased circulating Interferon-alpha concentration, Thrombocytopenia, Splenomegaly, Hemolytic a... OMIM:615010
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Unilateral renal agenesis, Azoospermia, Decreased circulating follicle stimulating hormone concen... OMIM:308700
Acute Lung Injury
Abnormal circulating cytokine concentration, Increased circulating interleukin 6 concentration, A... ORPHA:178320
Diaphanospondylodysostosis
Absent in utero rib ossification, Enlarged kidney, Inguinal hernia, Nephroblastomatosis, Absent i... OMIM:608022
Juvenile Nephropathic Cystinosis
Low-molecular-weight proteinuria, Elevated circulating creatinine concentration, Renal phosphate ... ORPHA:411634
Kallmann Syndrome With Spastic Paraplegia
Unilateral renal agenesis, Decreased circulating follicle stimulating hormone concentration, Decr... OMIM:308750
Immunodeficiency 115 With Autoinflammation
Intermittent diarrhea, Anemia, Partial absence of specific antibody response to Haemophilus influ... OMIM:620632
Mucopolysaccharidosis-Plus Syndrome
Enlarged kidney, Hepatomegaly, Inability to walk, Focal segmental glomerulosclerosis, Nephrotic s... OMIM:617303
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Hepatomegaly, Renal insufficiency, Tubulointerstitial fibrosis, Polycystic kidne... OMIM:263200
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Diarrhea, B lymphocytopenia, Panhypogammaglobulinemia, T lymphocytopenia OMIM:601457
Refractory Celiac Disease
Hypocalcemia, Hypoproteinemia, Osteoporosis, Hypomagnesemia, Hypophosphatemia, Hypoalbuminemia ORPHA:398063
Tyrosinemia, Type I
Elevated urinary delta-aminolevulinic acid, Enlarged kidney, Hypophosphatemic rickets, Hepatomega... OMIM:276700
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Diarrhea, B lymphocytopenia, Increased circulating IgE level, T lymphocytopenia, Lymphopenia ORPHA:277
Immunodeficiency 25
Autoimmune hemolytic anemia, Increased circulating IgG level, Complete or near-complete absence o... OMIM:610163
Sweet Syndrome
Anemia, Acute myeloid leukemia, Increased circulating interleukin 6 concentration, Chronic lympha... ORPHA:3243
Uremic Pruritus
Hypermagnesemia, Depression, Increased blood urea nitrogen, Hypercalcemia, Chronic kidney disease... ORPHA:94059
Nephronophthisis 3
Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Enuresis, Re... OMIM:604387
Oncogenic Osteomalacia
Renal phosphate wasting, Hypocalcemia, Gait disturbance, Hyperphosphaturia, Hypophosphatemia, Fib... ORPHA:352540
Hyperparathyroidism, Neonatal Severe
Polyuria, Calcinosis, Hepatomegaly, Elevated circulating parathyroid hormone level, Hypercalciuri... OMIM:239200
Hereditary Fructose Intolerance
Hypermagnesemia, Hepatomegaly, Renal insufficiency, Hyperuricemia, Hypophosphatemia, Chronic kidn... ORPHA:469
Mody
Abnormality of the kidney, Neonatal hypoglycemia, Abnormal circulating C-peptide concentration, H... ORPHA:552
Beckwith-Wiedemann Syndrome
Neonatal hypoglycemia, Enlarged kidney, Hepatomegaly, Adrenocortical carcinoma, Renal cortical cy... OMIM:130650
Familial Hypocalciuric Hypercalcemia
Hypermagnesemia, Hypocalcemic seizures, Hypomagnesiuria, Hypocalciuria, Lipoma, Reduced ratio of ... ORPHA:405
Immunodeficiency 13
B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lympho... OMIM:615518
Renal Cysts And Diabetes Syndrome
Multiple glomerular cysts, Abnormal renal morphology, Impaired glucose tolerance, Atretic vas def... OMIM:137920
Oculocerebrorenal Syndrome Of Lowe
Delayed puberty, Abnormal circulating calcium-phosphate regulating hormone concentration, Nephroc... ORPHA:534
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Spermatogenic Failure, X-Linked, 2
Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia OMIM:309120
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Pan... OMIM:618986
Hyperparathyroidism, Transient Neonatal
Osteopenia, Enlarged kidney, Subperiosteal bone formation, Unilateral renal agenesis, Inguinal he... OMIM:618188
Wolfram Syndrome 1
Hydroureter, Diabetes insipidus, Neurogenic bladder, Hypothyroidism, Hydronephrosis, Ataxia, Diab... OMIM:222300
Smith-Lemli-Opitz Syndrome
Bifid scrotum, Splenomegaly, Small scrotum, Septate vagina, Hypocholesterolemia, Hypospadias, Bic... OMIM:270400
Igg4-Related Kidney Disease
Enlarged kidney, Elevated circulating creatinine concentration, Urinary bladder inflammation, Acu... ORPHA:449395
Pearson Syndrome
Decreased response to growth hormone stimulation test, Steatorrhea, Hypoparathyroidism, Hepatomeg... ORPHA:699
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy, Congenital diaphragmatic hernia, Decreased skull ossification, Omphalocele OMIM:601163
Beckwith-Wiedemann Syndrome
Congenital diaphragmatic hernia, Enlarged kidney, Ureteral duplication, Splenomegaly, Multiple re... ORPHA:116
Colchicine Poisoning
Abnormal blood ion concentration, Hypokalemia, Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypoph... ORPHA:31824
Hemihyperplasia-Multiple Lipomatosis Syndrome
Lipoatrophy, Enlarged kidney, Nephroblastoma, Ovarian serous cystadenoma, Multiple lipomas, Hydro... ORPHA:276280
Autosomal Recessive Hypophosphatemic Rickets
Pseudo-fractures, Hypophosphatemic rickets, Rickets of the lower limbs, Renal phosphate wasting, ... ORPHA:289176
Fructose Intolerance, Hereditary
Bicarbonaturia, Hepatomegaly, Hyperuricemia, Transient aminoaciduria, Hyperbilirubinemia, Proxima... OMIM:229600
Dubowitz Syndrome
Hypospadias, Inguinal hernia, Short attention span, Hypocholesterolemia, Cryptorchidism OMIM:223370
Renal-Hepatic-Pancreatic Dysplasia 1
Enlarged kidney, Hyperechogenic pancreas, Hepatomegaly, Renal insufficiency, Polycystic kidney dy... OMIM:208540
Chylomicron Retention Disease
Steatorrhea, Hypocholesterolemia ORPHA:71
Alg9-Cdg
Irritability, Abnormal bone ossification, Enlarged kidney, Hepatomegaly, Hypoplasia of the ovary,... ORPHA:79328
Endocrine-Cerebroosteodysplasia
Enlarged kidney, Hypospadias, Adrenal hypoplasia, Microphallus, Hyperechogenic kidneys, Small scr... OMIM:612651
Multicystic Dysplastic Kidney
Enlarged kidney, Unilateral renal agenesis, Ureterovesical junction obstruction, Vesicoureteral r... ORPHA:1851
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Abnormal circulating interferon-gamma concentration, Anemia, Abnormal natural killer cell count, ... ORPHA:79124
Thyrotoxic Periodic Paralysis
Hyperkalemia, Thyrotoxicosis with toxic single thyroid nodule, Transient hypophosphatemia, Thyrot... ORPHA:79102
Mucolipidosis Ii Alpha/Beta
Osteopenia, Tip-toe gait, Enlarged kidney, Hepatomegaly, Inguinal hernia, Increased serum beta-he... OMIM:252500
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Enlarged kidney, Inability to walk, Nephrotic syndrome, Hepatosplenomegaly, Proteinuria, Flexion ... ORPHA:505248
Raine Syndrome
Subperiosteal bone formation, Hydroureter, Increased bone mineral density, Enamel hypoplasia, Hyd... OMIM:259775
Immunodeficiency By Defective Expression Of Mhc Class Ii
Autoimmune hemolytic anemia, Panhypogammaglobulinemia, Pancytopenia, Diarrhea, Neutropenia in pre... ORPHA:572
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Enlarged kidney, Neonatal death, Hydronephrosis, Urethral atresia OMIM:314390
Meacham Syndrome
Blind vagina, Stillbirth, Enlarged kidney, Aplasia of the left hemidiaphragm, Bicornuate uterus, ... OMIM:608978
Kaposiform Lymphangiomatosis
Enlarged kidney, Hepatosplenomegaly, Splenomegaly, Multiple renal cysts, Metrorrhagia, Pancreatic... ORPHA:464329
Renal-Hepatic-Pancreatic Dysplasia 2
Stillbirth, Enlarged kidney, Hepatomegaly, Cystic renal dysplasia OMIM:615415
X-Linked Hypophosphatemia
Rickets, Reduced bone mineral density, Vertebral hyperostosis, Renal phosphate wasting, Hypocalci... ORPHA:89936
Combined Immunodeficiency Due To Dock8 Deficiency
B lymphocytopenia, Increased circulating IgE level, T lymphocytopenia ORPHA:217390
Acrocephalopolydactylous Dysplasia
Enlarged kidney, Hepatomegaly, Omphalocele, Craniosynostosis, Pancreatic fibrosis, Cystic renal d... OMIM:200995
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope... ORPHA:231154
Pgm3-Cdg
Gastroesophageal reflux, Decreased proportion of CD3-positive T cells, Neutropenia in presence of... ORPHA:443811
Lesch-Nyhan Syndrome
Hyperuricemia, Nephrolithiasis, Nephrocalcinosis, Choreoathetosis, Hyperuricosuria, Testicular at... OMIM:300322
Autosomal Recessive Polycystic Kidney Disease
Acute kidney injury, Enlarged kidney, Increased serum bile acid concentration, Renal insufficienc... ORPHA:731
Kaufman Oculocerebrofacial Syndrome
Hypocholesterolemia, Hypoplastic labia majora, Clitoral hypertrophy OMIM:244450
Ogden Syndrome
Irritability, Enlarged kidney, Maternal diabetes, Inguinal hernia, Polycystic kidney dysplasia, H... OMIM:300855
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Decreased specific anti-polysaccharide antibody level, B lymphocytop... OMIM:606367
Aarskog-Scott Syndrome
Delayed puberty, Inguinal hernia, Bilateral cryptorchidism, Elevated circulating follicle stimula... OMIM:305400
Secondary Intestinal Lymphangiectasia
Decreased circulating prealbumin concentration, Secondary hyperaldosteronism, Reduced circulating... ORPHA:90363
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Intestinal obstruction, Impaired lymphocyte transformation with phytohemagglutinin, Panhypogammag... OMIM:600802
Immunodeficiency 68
B lymphocytopenia, Abscess, Abnormal natural killer cell count, T lymphocytopenia OMIM:612260
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Enlarged kidney, Polycystic kidney dysplasia, Renal dysplasia, Ambiguous genitalia, Micropenis OMIM:613091
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Diarrhea, T lymphocytopenia, Increased circulating IgM level, Reduced natural killer cell count, ... OMIM:242860
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Decreased proporti... OMIM:617237
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Chronic diarrhea, T lymphocytopenia, Hepatosplenomegaly, Lymphopenia, Abno... OMIM:242700
Immunodeficiency 26 With Or Without Neurologic Abnormalities
B lymphocytopenia, Recurrent aphthous stomatitis, Abnormal natural killer cell morphology, T lymp... OMIM:615966
Tangier Disease
Hypertriglyceridemia, Hypocholesterolemia, Hepatosplenomegaly, Left ventricular hypertrophy ORPHA:31150
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Bradykinesia, Premature ovarian insufficiency, Depression, Secondary amenorrhea, Gait ataxia, Hyp... OMIM:157640
Lymphoid Interstitial Pneumonia
Enlarged kidney, Hepatomegaly, Abnormality of connective tissue ORPHA:79128
Immunodeficiency 17
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Abnormal B cell morpho... OMIM:615607
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Chronic diarrhea, ... ORPHA:35078
Epidermodysplasia Verruciformis, Susceptibility To, 5
Lymphopenia, T lymphocytopenia OMIM:618309
Immunodeficiency 40
Intermittent diarrhea, Focal active colitis, Chronic diarrhea, Eosinophilic granuloma, T lymphocy... OMIM:616433
Steinert Myotonic Dystrophy
Impotence, Cognitive impairment, Decreased response to growth hormone stimulation test, Hyperinsu... ORPHA:273
Opsismodysplasia
Hypophosphatemia, Renal phosphate wasting OMIM:258480
Myotonic Dystrophy 1
Testicular atrophy, Cholelithiasis, Hypogonadism OMIM:160900
Helsmoortel-Van Der Aa Syndrome
Irritability, Decreased response to growth hormone stimulation test, Enlarged kidney, Recurrent u... OMIM:615873
Cardiac-Urogenital Syndrome
Congenital diaphragmatic hernia, Enlarged kidney, Penoscrotal hypospadias, Aplasia of the uterus,... OMIM:618280
Proteus Syndrome
Abnormal subcutaneous fat tissue distribution, Cranial hyperostosis, Enlarged kidney, Ovarian neo... ORPHA:744
Autosomal Recessive Malignant Osteopetrosis
Osteopetrosis, Reduced bone mineral density, Hepatomegaly, Hypocalcemia, Splenomegaly, Hypophosph... ORPHA:667
Interstitial Cystitis
Abnormality of tumor necrosis factor secretion ORPHA:37202
Infection-Related Hemolytic Uremic Syndrome
Increased circulating interleukin 6 concentration, Acute colitis, Diarrhea, Bloody diarrhea, Leuk... ORPHA:544482
X-Linked Intellectual Disability, Snyder Type
Hypospadias, Ectopic kidney, Inability to walk, Abnormality of the Leydig cells, Osteoporosis, Ca... ORPHA:3063
Ataxia-Telangiectasia
Chronic diarrhea, Hypoplasia of the thymus, T lymphocytopenia, Decreased circulating IgG level, A... OMIM:208900
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomegaly, Neonatal hypoglycemia, Enlarged kidney OMIM:261740
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Enlarged kidney, Inguinal hernia, Camptodactyly, Bifid ureter, Nephroblastoma, Renal malrotation,... ORPHA:500095
Agammaglobulinemia, X-Linked
Anemia, Decreased circulating IgE, B lymphocytopenia, Chronic diarrhea, T lymphocytopenia, Decrea... OMIM:300755
Simpson-Golabi-Behmel Syndrome, Type 1
Congenital diaphragmatic hernia, Enlarged kidney, Hepatomegaly, Hypospadias, Inguinal hernia, Ren... OMIM:312870
Bone Marrow Failure Syndrome 5
Testicular atrophy, Hypogonadism OMIM:618165
Heterotaxy, Visceral, 1, X-Linked
Enlarged kidney, Hepatomegaly, Omphalocele, Renal agenesis, Cardiomegaly, Horseshoe kidney OMIM:306955
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune hemolytic anemia, Abnormal circulating interferon-gamma concentration, Diarrhea, B lym... ORPHA:391487
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased circulating total IgM, Decreased proportion of CD8-positive T cells, Increased circulat... ORPHA:508533
Progeria-Short Stature-Pigmented Nevi Syndrome
Gastroesophageal reflux, Microcytic anemia, Episodic vomiting, T lymphocytopenia ORPHA:2959
Vici Syndrome
T lymphocytopenia, Decreased circulating IgG level, Decreased proportion of CD4-positive helper T... OMIM:242840
Immunodeficiency 82 With Systemic Inflammation
Decreased circulating total IgG, Intractable diarrhea, Anemia, Gastritis, Diarrhea, B lymphocytop... OMIM:619381
Psoriasis-Related Juvenile Idiopathic Arthritis
Abnormality of tumor necrosis factor secretion ORPHA:85436
T-Cell Immunodeficiency With Thymic Aplasia
Diarrhea, Decreased proportion of naive T cells, T lymphocytopenia, Coombs-positive hemolytic ane... ORPHA:83471
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Dysgammaglobulinemia, Diarrhea, B lymphocytopenia, T lymphocytopenia... OMIM:251260
Spondyloenchondrodysplasia With Immune Dysregulation
Autoimmune thrombocytopenia, Neutropenia, Lymphopenia, T lymphocytopenia OMIM:607944
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Aplasia of the thymus, Abnormal B cell morphology, T lymphocytopenia OMIM:618223

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 Fads1

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 Fads1.

No publications found that use IMPC mice or data for Fads1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Fads1tm108600(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Fads1tm2e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Fads1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Fads1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells
Fads1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Fads1tm1.1(KOMP)Vlcg Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice, Tissue

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter