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Gene: Ak4 MGI:87979

Gene Summary

Name:

adenylate kinase 4

Synonyms:

D4Ertd274e, Ak3l1, Ak-4, Ak-3

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

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	Allele	Zyg	Life Stage	P Value
decreased bone mineral content	Ak4^{em1(IMPC)Kmpc}	HOM	Early adult	7.28×10^-06
hyperactivity	Ak4^{em1(IMPC)Kmpc}	HOM	Late adult	6.42×10^-06
increased bone mineral content	Ak4^{em1(IMPC)Kmpc}	HOM	Late adult	8.76×10^-05
increased circulating LDL cholesterol level	Ak4^{em1(IMPC)Kmpc}	HOM	Late adult	2.74×10^-09
abnormal duodenum morphology	Ak4^{em1(IMPC)Kmpc}	HOM	Late adult	0.00
abnormal coat/hair pigmentation	Ak4^{em1(IMPC)Kmpc}	HOM	Late adult	1.72×10^-08
abnormal seminal vesicle morphology	Ak4^{em1(IMPC)Kmpc}	HOM	Late adult	0.00
abnormal ileum morphology	Ak4^{em1(IMPC)Kmpc}	HOM	Late adult	0.00
abnormal coat/ hair morphology	Ak4^{em1(IMPC)Kmpc}	HOM	Late adult	1.78×10^-05
increased circulating cholesterol level	Ak4^{em1(IMPC)Kmpc}	HOM	Late adult	1.14×10^-05

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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.

Eye Morphology

Images Slit Lamp

3 Images

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Human diseases caused by Ak4 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.

Human diseases associated with Ak4 (0 diseases)
Human diseases predicted to be associated with Ak4 (342 diseases)

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

The table below shows human diseases predicted to be associated to Ak4 by phenotypic similarity.

Disease	Matching phenotypes	Source
Cystic Angiomatosis Of Bone, Diffuse	Cystic angiomatosis of bone	OMIM:123880
Cholesterol-Ester Transfer Protein Deficiency	Hypotriglyceridemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemi...	ORPHA:79506
Diarrhea 7, Protein-Losing Enteropathy Type	Protein-losing enteropathy, Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia, Villous atrophy	OMIM:615863
Hypertriglyceridemia 2	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia	OMIM:619324
Griscelli Syndrome, Type 3	Large clumps of pigment irregularly distributed along hair shaft, White eyelashes, Silver-gray hair	OMIM:609227
Xanthomatosis, Susceptibility To	Hypercholesterolemia	OMIM:602247
Griscelli Syndrome, Type 1	Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Large...	OMIM:214450
Sitosterolemia 2	Elevated circulating sitosterol concentration, Hypercholesterolemia	OMIM:618666
Thyroid Hormone Metabolism, Abnormal, 2	Hypercholesterolemia	OMIM:619855
Hypothyroidism, Congenital, Nongoitrous, 8	Attention deficit hyperactivity disorder, Hypercholesterolemia	OMIM:301033
Attention Deficit-Hyperactivity Disorder	Hyperactivity, Attention deficit hyperactivity disorder	OMIM:143465
Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia	Increased LDL cholesterol concentration, Fair hair, Aggressive behavior	OMIM:618808
Glycogen Storage Disease Vi	Hypertriglyceridemia, Hypercholesterolemia, Hyperlipidemia	OMIM:232700
Meckel Diverticulum	Meckel diverticulum	OMIM:155140
Hyperlipoproteinemia, Type Ii, And Deafness	Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia	OMIM:144300
Blood Group, Cromer System	Protein-losing enteropathy	OMIM:613793
Morbid Obesity And Spermatogenic Failure	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Azoospermia, Increased LDL cholest...	OMIM:615703
Albinism, Oculocutaneous, Type Iii	Albinism, Red hair, Partial albinism	OMIM:203290
Coronary Artery Disease, Autosomal Dominant, 1	Hypercholesterolemia	OMIM:608320
Hypercholesterolemia, Familial, 4	Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia	OMIM:603813
Tietz Syndrome	White eyebrow, Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation o...	ORPHA:42665
Cholestasis, Progressive Familial Intrahepatic, 10	Increased serum bile acid concentration, Increased total bilirubin, Conjugated hyperbilirubinemia...	OMIM:619868
Autoinflammatory Disease, Familial, Behcet-Like 3	Ileitis, Vaginal mucosal ulceration	OMIM:618287
Congenital Disorder Of Glycosylation, Type Iip	Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi...	OMIM:616829
Hidrotic Ectodermal Dysplasia	Nail dystrophy, Slow-growing nails, Hypopigmentation of hair, Small nail, Absent pubic hair, Hype...	ORPHA:189
Alazami-Yuan Syndrome	Highly arched eyebrow, Hyperactivity, Hirsutism, High palate, Synophrys, Long eyelashes, Low ante...	OMIM:617126
Hyperinsulinemic Hypoglycemia, Familial, 8	Attention deficit hyperactivity disorder, Hyperammonemia, Increased C-peptide level, Hypercholest...	OMIM:620211
Analbuminemia	Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Osteopor...	OMIM:616000
Cholesteryl Ester Storage Disease	Hypertriglyceridemia, Esophageal varix, Hypercholesterolemia	ORPHA:75234
Hyperlipidemia, Familial Combined, 3	Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ...	OMIM:144250
Waardenburg-Shah Syndrome	Premature graying of hair, Intestinal obstruction, Aganglionic megacolon, Hypopigmentation of hai...	ORPHA:897
Melorheostosis, Isolated	Increased bone mineral density, Hyperostosis	OMIM:155950
Waardenburg Syndrome, Type 4B	Hypopigmented skin patches, Premature graying of hair, Aganglionic megacolon, Heterochromia iridi...	OMIM:613265
Coffin-Siris Syndrome 8	Hyperactivity, Sparse scalp hair, Long eyelashes, Thick eyebrow, Self-injurious behavior, Cryptor...	OMIM:618362
Congenital Generalized Lipodystrophy	Hypertriglyceridemia, Clitoral hypertrophy, Precocious puberty in females, Bone cyst, Low posteri...	ORPHA:528
Lipodystrophy, Congenital Generalized, Type 3	Hypertriglyceridemia, Hirsutism, Hypercholesterolemia, Hypocalcemia	OMIM:612526
Smith-Magenis Syndrome	Hypertriglyceridemia, Hyperactivity, Head-banging, Self hugging, Synophrys, Velopharyngeal insuff...	OMIM:182290
Pancreatic Lipase Deficiency	Steatorrhea, Fat malabsorption, Hypocholesterolemia	OMIM:614338
Alpha-Heavy Chain Disease	Hypocalcemia, Abnormal small intestine morphology, Alopecia	ORPHA:100025
Waardenburg Syndrome Type 2	Hypopigmented skin patches, Premature graying of hair, Aganglionic megacolon, Hypopigmentation of...	ORPHA:895
Albinism, Oculocutaneous, Type Ib	Albinism, Hypopigmentation of the skin, Hypopigmentation of hair	OMIM:606952
Intellectual Developmental Disorder, X-Linked 109	Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic...	OMIM:309548
Waardenburg Syndrome, Type 2F	Premature graying of hair, Hypermelanotic macule, Hypopigmentation of the skin, Heterochromia iri...	OMIM:619947
Chylomicron Retention Disease	Steatorrhea, Hypotriglyceridemia, Accumulation of lipid droplets in small-bowel enterocytes, Decr...	OMIM:246700
Fraxe Intellectual Disability	Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic...	ORPHA:100973
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypertriglyceridemia, Nail dystrophy, External genital hypoplasia, Clitoral hypertrophy, Hypospad...	OMIM:610644
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Generalized hyperpigmentation, Hypospadias, Hypopigmentation of hair	ORPHA:1355
Woolly Hair	Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Woolly ha...	ORPHA:170
Phenylketonuria	Hyperactivity, Generalized hypopigmentation, Hyperphenylalaninemia, Compulsive behaviors, Materna...	OMIM:261600
Piebald Trait-Neurologic Defects Syndrome	Hypopigmented skin patches, Irregular hyperpigmentation, Aganglionic megacolon, Hypopigmentation ...	ORPHA:2885
Distal Myopathy, Tateyama Type	Abnormal circulating creatine kinase concentration, Hypercholesterolemia	ORPHA:488650
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	Hyperactivity, Bruxism, Hirsutism, Gastroesophageal reflux	OMIM:300434
Griscelli Syndrome, Type 2	Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accumulation of melanos...	OMIM:607624
Uncombable Hair Syndrome	Abnormal hair morphology, White hair, Patchy alopecia, Woolly hair, Trichodysplasia, Coarse hair	ORPHA:1410
Temple Syndrome	Hypertriglyceridemia, High palate, Decreased testicular size, Precocious puberty, Bifid uvula, Cl...	OMIM:616222
Fg Syndrome 3	Hyperactivity, Cryptorchidism, Pyloric stenosis, Sparse hair, Frontal upsweep of hair, Fine hair	OMIM:300406
Multiple Intestinal Atresia	Gastrointestinal atresia, Duodenal stenosis	ORPHA:2300
Morgagni-Stewart-Morel Syndrome	Hyperuricemia, Hirsutism, Hyperostosis frontalis interna, Osteoporosis, Hypercholesterolemia	ORPHA:77296
Martinez-Frias Syndrome	Annular pancreas, Hypoplasia of the gallbladder, Hypospadias, Pancreatic hypoplasia, Intestinal h...	OMIM:601346
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Osteoporosis, Albinism, Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:2786
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Partial albinism, Hypopigmentation of hair	ORPHA:90023
Griscelli Syndrome Type 3	Iris hypopigmentation, Hypopigmentation of hair, Partial albinism	ORPHA:79478
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypoalbuminemia, Hypercholesterolemia	ORPHA:94124
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	High palate, Precocious puberty, Pyloric stenosis, Cleft palate, Bifid uvula, Cryptorchidism, Hyp...	ORPHA:96184
Albinism, Oculocutaneous, Type Iv	Albinism, Blue irides, Hypopigmentation of hair	OMIM:606574
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Precocious puberty, High palate, Hypercholesterolemia	ORPHA:254531
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypoalbuminemia, Hypercholesterolemia	OMIM:607250
Hepatic Lipase Deficiency	Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia	OMIM:614025
Mandibuloacral Dysplasia	Hypertriglyceridemia, Hypoplastic fingernail, Abnormal tongue morphology, Osteolytic defects of t...	ORPHA:2457
Citrullinemia Type Ii	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Hyperc...	ORPHA:247585
Mitchell-Riley Syndrome	Annular pancreas, Meckel diverticulum, Hyperbilirubinemia, Acholic stools, Pancreatic hypoplasia,...	OMIM:615710
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Jejunoileal ulceration, Hypoproteinemia, Small bowel diverticula, Fat malabsorption	OMIM:221400
Prader-Willi Syndrome Due To Imprinting Mutation	External genital hypoplasia, Hypopigmentation of hair, Hypopigmentation of the skin, Polyphagia, ...	ORPHA:177910
Hypercholanemia, Familial 1	Rickets, Steatorrhea, Fat malabsorption, Increased serum bile acid concentration	OMIM:607748
Congenital Disorder Of Glycosylation, Type Iio	Elevated circulating creatine kinase concentration, Increased LDL cholesterol concentration, Hype...	OMIM:616828
Inflammatory Bowel Disease (Crohn Disease) 30	Protein-losing enteropathy, Gastritis, Pancolitis, Abnormal intestine morphology, Esophagitis, Du...	OMIM:619079
Hyperprolinemia, Type I	Hyperactivity, Hyperprolinemia, Motor stereotypy, Aggressive behavior	OMIM:239500
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Nail dysplasia, Anorexia, Nail dystrophy, Protein-losing enteropathy, Hypokalemia, Hyperpigmentat...	OMIM:175500
Glycine Encephalopathy 1	Hyperactivity, Impulsivity, Restlessness, Hyperglycinemia, Aggressive behavior	OMIM:605899
Cog4-Cdg	Recurrent infection of the gastrointestinal tract, Hypercholesterolemia, Thick hair	ORPHA:263501
Glycogen Storage Disease Ixa1	Hypertriglyceridemia, Hypercholesterolemia, Hyperuricemia	OMIM:306000
Waardenburg Syndrome, Type 4A	Hypopigmented skin patches, Premature graying of hair, Aganglionic megacolon, Heterochromia iridi...	OMIM:277580
Visceral Myopathy 2	Intestinal obstruction, Rectal prolapse, Gastroesophageal reflux, Intestinal pseudo-obstruction, ...	OMIM:619350
Duodenal Ulcer Due To Antral G-Cell Hyperfunction	Duodenal ulcer, Hyperpepsinogenemia I	OMIM:126840
Duodenal Ulcer, Hyperpepsinogenemic I	Duodenal ulcer, Hyperpepsinogenemia I	OMIM:126850
Bile Acid Malabsorption, Primary, 1	Increased fecal bile acid, Steatorrhea, Fat malabsorption	OMIM:613291
Vascular Hyalinosis	Premature graying of hair, Protein-losing enteropathy, Hematochezia	OMIM:277175
Secondary Short Bowel Syndrome	Steatorrhea, Aganglionic megacolon, Small intestinal dysmotility, Polyphagia, Abnormal small inte...	ORPHA:95427
Woolly Hair Nevus	Woolly scalp hair, Heterochromia iridis, Curly hair, Precocious puberty, Congenital posterior occ...	ORPHA:79414
Griscelli Syndrome Type 1	Premature graying of hair, Hyperlipidemia, White hair, Iris hypopigmentation, Partial albinism	ORPHA:79476
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Hypopigmentation of hair, Hyperactivity, Hypopigmentation of the skin, Polyphagia, Iris hypopigme...	ORPHA:411515
Mitochondrial Complex Iv Deficiency, Nuclear Type 19	Hyperglycinemia, Protein-losing enteropathy	OMIM:619063
Congenital Short Bowel Syndrome	Steatorrhea, Abnormal peristalsis, Congenital shortened small intestine, Intestinal malrotation, ...	OMIM:615237
Waardenburg Syndrome	Premature graying of hair, Hypopigmented skin patches, Intestinal obstruction, Aganglionic megaco...	ORPHA:3440
Acrodysostosis 2 With Or Without Hormone Resistance	Red hair, Hypospadias, Hyperactivity, Advanced ossification of carpal bones, Cryptorchidism, Blue...	OMIM:614613
Albinism, Oculocutaneous, Type Ii	Red hair, Hypopigmentation of hair, Hypopigmentation of the skin, Albinism, Blue irides, Freckles...	OMIM:203200
Intellectual Developmental Disorder, Autosomal Dominant 67	Gastroesophageal reflux, Hyperactivity, Compulsive behaviors, Motor tics, Attention deficit hyper...	OMIM:619927
Smith-Magenis Syndrome	Hypertriglyceridemia, Gastroesophageal reflux, Synophrys, Precocious puberty, Cleft palate, Motor...	ORPHA:819
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Esophageal atresia, Tracheoesophageal fistula, Low posterior hairline, Cafe-au-lait spot, Attenti...	OMIM:619227
Oculocutaneous Albinism, Type Viii	Iris transillumination defect, Hypopigmentation of the skin, Hypopigmentation of hair	OMIM:619165
Neuroectodermal Melanolysosomal Disease	Premature graying of hair, Generalized hyperpigmentation, Hypopigmentation of the skin, Hypopigme...	ORPHA:33445
Hypercholesterolemia, Familial, 3	Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration	OMIM:603776
Waardenburg Syndrome Type 1	Premature graying of hair, Hypopigmented skin patches, Aganglionic megacolon, Hypopigmentation of...	ORPHA:894
Piebaldism	Hypopigmented skin patches, Aganglionic megacolon, Hypopigmentation of hair, Piebald skin depigme...	ORPHA:2884
Waardenburg Syndrome, Type 2A	Premature graying of hair, Numerous pigmented freckles, Heterochromia iridis, Synophrys, White fo...	OMIM:193510
Cholestasis, Progressive Familial Intrahepatic, 8	Increased serum bile acid concentration, Esophageal varix, Bile duct proliferation, Elevated circ...	OMIM:619662
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Ileal atresia, Intestinal obstruction, Hypoplasia of the thymus, Intestinal malrotation, Enteroco...	OMIM:243150
Hypercholesterolemia, Familial, 2	Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia	OMIM:144010
Diarrhea 12, With Microvillus Atrophy	Osteopenia, Microvillar PAS-positive secretory granules, Microvillus inclusions, Villous atrophy	OMIM:619445
Elejalde Neuroectodermal Melanolysosomal Syndrome	Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accumulation of melanos...	OMIM:256710
Prader-Willi Syndrome	Osteopenia, Hypertriglyceridemia, Decreased response to growth hormone stimulation test, External...	OMIM:176270
Trigonocephaly 1	High, narrow palate, Long penis, Meckel diverticulum, Synophrys, Craniosynostosis	OMIM:190440
Diarrhea 5, With Tufting Enteropathy, Congenital	Crypt hyperplasia, Villous atrophy	OMIM:613217
Acquired Hypertrichosis Lanuginosa	Ovarian neoplasm, Hypopigmentation of hair, Glossitis, Abnormal eyebrow morphology, Generalized h...	ORPHA:2221
Citrullinemia, Type Ii, Neonatal-Onset	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Increa...	OMIM:605814
Laron Syndrome	Hypercholesterolemia, Hypoplasia of penis	ORPHA:633
Obesity And Hypopigmentation	Red hair, Polyphagia	OMIM:620195
Duodenal Atresia	Duodenal atresia	OMIM:223400
2Q23.1 Microdeletion Syndrome	Hypoplasia of penis, Highly arched eyebrow, Hyperactivity, Polyphagia, Synophrys, Generalized hir...	ORPHA:228402
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets	Duodenal ulcer, Abnormal circulating eicosanoid concentration, Decreased circulating 12-HETE, Eso...	OMIM:618372
Neuhauser Syndrome	Osteopenia, Iris transillumination defect, High palate, Bifid uvula, Low anterior hairline, Dysph...	OMIM:249310
Isolated Thyroid-Stimulating Hormone Deficiency	Pituitary hypothyroidism, Abnormal circulating thyroglobulin concentration, Thyroid hypoplasia, D...	ORPHA:90674
Congenital Enterocyte Heparan Sulfate Deficiency	Protein-losing enteropathy, Abnormal circulating protein concentration, Hematochezia, Abnormal ci...	ORPHA:103910
9Q31.1Q31.3 Microdeletion Syndrome	Highly arched eyebrow, Hypercholesterolemia, Thick hair	ORPHA:401923
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Elevated circulating creatine kinase concentration, Dysphagia, Elevated circulating alpha-fetopro...	ORPHA:64753
Trichohepatoenteric Syndrome 2	Trichorrhexis nodosa, Villous atrophy, Brittle hair, Uncombable hair, Woolly hair, Decreased circ...	OMIM:614602
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type	Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity	OMIM:301008
Obesity Due To Prohormone Convertase I Deficiency	Decreased response to growth hormone stimulation test, Red hair, Pituitary hypothyroidism, Hypopi...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Decreased response to growth hormone stimulation test, Red hair, Pituitary hypothyroidism, Hypopi...	ORPHA:71526
Squalene Synthase Deficiency	Hypospadias, Increased circulating farnesol concentration, Abnormality of hair pigmentation, Bila...	OMIM:618156
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent...	ORPHA:247598
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Decreased response to growth hormone stimulation test, Red hair, Decreased growth hormone respons...	OMIM:609734
Cholesteryl Ester Storage Disease	Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Increased LDL cholest...	OMIM:278000
Piebald Trait	Aganglionic megacolon, Piebald skin depigmentation, Heterochromia iridis, White forelock, Absent ...	OMIM:172800
Nephrotic Syndrome, Type 11	Hypoalbuminemia, High palate, Cleft palate, Hypercholesterolemia	OMIM:616730
8p23.1 deletion syndrome	Hyperactivity, Cryptorchidism	DECIPHER:39
Hypotrichosis 8	Coarse hair, Ridged nail, Sparse scalp hair, Woolly hair, Sparse eyelashes, Nail pits, Sparse eye...	OMIM:278150
Classic Phenylketonuria	Hypopigmentation of hair, Hyperphenylalaninemia, Hypopigmentation of the skin, Attention deficit ...	ORPHA:79254
Galactokinase Deficiency	Increased level of galactitol in plasma, Hypergalactosemia, Hypercholesterolemia, Hypergonadotrop...	ORPHA:79237
Mandibuloacral Dysplasia With Type A Lipodystrophy	Osteopenia, Calcinosis, Alopecia, Osteolytic defects of the distal phalanges of the hand, Hyperli...	OMIM:248370
Hennekam Lymphangiectasia-Lymphedema Syndrome 3	Hydrocele testis, Protein-losing enteropathy, Synophrys	OMIM:618154
Primary Biliary Cholangitis	Abnormal circulating lipid concentration, Xanthelasma, Steatorrhea, Gastrointestinal inflammation...	ORPHA:186
Intellectual Developmental Disorder, Autosomal Recessive 38	Narrow palate, Hyperactivity, Recurrent hand flapping, Blue irides, Self-mutilation, Aggressive b...	OMIM:615516
Nk-Cell Enteropathy	Duodenal ulcer, Gastroesophageal reflux, Abnormal gastric mucosa morphology, Colonic diverticula,...	ORPHA:263665
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Inappropriate behavior, Nail-biting, Hyperpigmentation of the skin, Hyperactivity, Attention defi...	OMIM:619827
Waardenburg Syndrome, Type 4C	Hypopigmented skin patches, Premature graying of hair, Aganglionic megacolon, Lacrimal gland hypo...	OMIM:613266
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration	OMIM:208920
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Intestinal atresia, Duodenal atresia	ORPHA:3405
Oculocutaneous Albinism Type 3	Blue irides, Red hair, Hypopigmentation of the skin, Iris hypopigmentation, White eyelashes, Whit...	ORPHA:79433
Chronic Diarrhea Due To Glucoamylase Deficiency	Decreased small intestinal mucosa lactase level, Abnormal small intestinal mucosa morphology	ORPHA:103907
Duodenal Atresia	Annular pancreas, Duodenal atresia	ORPHA:1203
Ermine Phenotype	White hair, White eyelashes, Vitiligo, Spotty hyperpigmentation, White eyebrow, Abnormal iris pig...	OMIM:227010
Inverted Duplicated Chromosome 15 Syndrome	Gonadal dysgenesis, Hyperactivity, High palate, Synophrys, Precocious puberty, Motor stereotypy, ...	ORPHA:3306
Apolipoprotein C-Ii Deficiency	Hypertriglyceridemia, Decreased circulating apolipoprotein C-II concentration, Hypercholesterolem...	OMIM:207750
Megalocornea-Intellectual Disability Syndrome	Osteopenia, High palate, Hypercholesterolemia, Motor stereotypy	ORPHA:2479
Griscelli Syndrome Type 2	Premature graying of hair, Hypopigmentation of hair, Hyperlipidemia, Iris hypopigmentation, Parti...	ORPHA:79477
Eosinophilic Gastroenteritis	Steatorrhea, Protein-losing enteropathy, Abnormality of the gastrointestinal tract, Elevated circ...	ORPHA:2070
Angelman Syndrome Due To A Point Mutation	Hypopigmentation of hair, Tongue thrusting, Hypopigmentation of the skin, Recurrent hand flapping...	ORPHA:411511
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Hepatocellular adenoma, Esophageal varix, Elevated circulating creatine kin...	ORPHA:264580
Sim1-Related Prader-Willi-Like Syndrome	Osteopenia, Abnormal temper tantrums, External genital hypoplasia, Premature pubarche, Hypopigmen...	ORPHA:398079
Intellectual Developmental Disorder, X-Linked 21	Hyperactivity, Macroorchidism, Impulsivity, Synophrys	OMIM:300143
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Hepatocellular adenoma, Hepatocellular carcinoma, Elevated circulating crea...	ORPHA:79240
Ataxia-Oculomotor Apraxia 4	Hypoalbuminemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration	OMIM:616267
Intellectual Developmental Disorder, Autosomal Dominant 53	Intestinal malrotation, Gastrointestinal dysmotility, Frontal upsweep of hair, Cryptorchidism, Mi...	OMIM:617798
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Gastroesophageal reflux, Abnormal reproductive system morphology, Dysphagia, Hypopigmentation of ...	ORPHA:70472
Alg6-Cdg	Hypoalbuminemia, Decreased LDL cholesterol concentration, Protein-losing enteropathy, Macroglossia	ORPHA:79320
Bile Acid Synthesis Defect, Congenital, 1	Rickets, Steatorrhea, Conjugated hyperbilirubinemia, Acholic stools, Hypocholesterolemia, Fat mal...	OMIM:607765
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentra...	ORPHA:567548
Refractory Celiac Disease	Protein-losing enteropathy, Jejunitis, Hypocalcemia, Hypoproteinemia, Osteoporosis, Hypomagnesemi...	ORPHA:398063
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome	Duodenal atresia, Aplasia of the thymus	ORPHA:3004
Fryns Syndrome	Aganglionic megacolon, Hypoplastic fingernail, Hypospadias, Gastroesophageal reflux, Ectopic anus...	ORPHA:2059
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Cholesterol ...	ORPHA:209902
Ataxia-Telangiectasia	Premature graying of hair, Hypopigmentation of hair, Abnormal testis morphology, Multiple cafe-au...	ORPHA:100
Magel2-Related Prader-Willi-Like Syndrome	Small pituitary gland, Hypopigmentation of the skin, Impulsivity, Hypogonadism, Small scrotum, Ex...	ORPHA:398069
Galloway-Mowat Syndrome 7	High palate, Cleft palate, Hypercholesterolemia	OMIM:618348
Congenital Contractural Arachnodactyly	Intestinal malrotation, High palate, Tracheoesophageal fistula, Duodenal atresia	ORPHA:115
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Hypopigmentation of hair, Tongue thrusting, Hyperactivity, Hypopigmentation of the skin, Recurren...	ORPHA:98794
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Hypopigmentation of hair, Alopecia	ORPHA:1067
Lysinuric Protein Intolerance	Osteopenia, Hypertriglyceridemia, Decreased response to growth hormone stimulation test, Steatorr...	ORPHA:470
Lmna-Related Cardiocutaneous Progeria Syndrome	Premature graying of hair, Hypertriglyceridemia, Absent eyelashes, Absent eyebrow, Sparse hair, A...	ORPHA:363618
Tremor-Nystagmus-Duodenal Ulcer Syndrome	Duodenal ulcer	ORPHA:3350
Oculocutaneous Albinism Type 4	Hypopigmentation of hair, White hair, Hypopigmentation of the skin, Iris hypopigmentation, Abnorm...	ORPHA:79435
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Hypopigmentation of the skin, Small scrotum, Decreased response to growth hormone stimulation tes...	ORPHA:98793
Hermansky-Pudlak Syndrome 1	Hypopigmentation of hair, Colitis, Hypopigmentation of the skin, Inflammation of the large intest...	OMIM:203300
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Hypopigmentation of the skin, Small scrotum, Decreased response to growth hormone stimulation tes...	ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Hypopigmentation of the skin, Small scrotum, Decreased response to growth hormone stimulation tes...	ORPHA:177901
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Hypopigmentation of the skin, Small scrotum, Decreased response to growth hormone stimulation tes...	ORPHA:98754
Alg1-Cdg	Hypoalbuminemia, Protein-losing enteropathy, Abnormality of the gastrointestinal tract	ORPHA:79327
Ataxia With Vitamin E Deficiency	Hypertriglyceridemia, Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia	OMIM:277460
Low Phospholipid-Associated Cholelithiasis	Neoplasm of the liver, Hepatocellular carcinoma, Hypercholesterolemia, Cholelithiasis	ORPHA:69663
Agammaglobulinemia 4, Autosomal Recessive	Protein-losing enteropathy	OMIM:613502
Fanconi Anemia, Complementation Group B	Esophageal atresia, Tracheoesophageal fistula, Hypergonadotropic hypogonadism, Hypogonadism, Micr...	OMIM:300514
Esophageal Atresia	Anorectal anomaly, Gastroesophageal reflux, Abnormal gastrointestinal tract morphology, Abnormal ...	ORPHA:1199
Fanconi Anemia, Complementation Group W	Decreased response to growth hormone stimulation test, Duodenal atresia	OMIM:617784
Lipodystrophy, Familial Partial, Type 2	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hirsutism, Labial pseudohypertroph...	OMIM:151660
Pancreatic Colipase Deficiency	Steatorrhea, Fat malabsorption, Cholelithiasis	ORPHA:309108
Acquired Aneurysmal Subarachnoid Hemorrhage	Hypopituitarism, Addictive alcohol use, Hypercholesterolemia	ORPHA:90065
Mucopolysaccharidosis, Type Iiic	Dense calvaria, Hyperactivity, Hirsutism, Synophrys, Hypertrichosis, Dysphagia, Coarse hair	OMIM:252930
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility	Intestinal malrotation, Duodenal atresia	OMIM:619608
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Tongue thrusting, Hypopigmentation of hair, Hypopigmentation of the skin, Protruding tongue, Iris...	ORPHA:98795
Congenital Analbuminemia	Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Increased alpha-globulin, Hypercholesterolemia	ORPHA:86816
Oculoskeletodental Syndrome	Protein-losing enteropathy, Hypocalcemia, Low posterior hairline, Hypercalcemia, Low anterior hai...	OMIM:618440
Hermansky-Pudlak Syndrome 3	Albinism, Hypopigmentation of the skin, Hypopigmentation of hair	OMIM:614072
Mucopolysaccharidosis, Type Iiib	Dense calvaria, Hyperactivity, Hirsutism, Synophrys, Coarse hair, Aggressive behavior	OMIM:252920
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Osteopenia, Xanthelasma, Hypertriglyceridemia, Hepatocellular adenoma, Hyperuricemia, Hepatocellu...	ORPHA:79259
Systemic Sclerosis	Irregular hyperpigmentation, Nail bed telangiectasia, Abnormality of the gastrointestinal tract, ...	ORPHA:90291
Inflammatory Skin And Bowel Disease, Neonatal, 1	Villous atrophy, Paronychia, Duodenitis, Onychogryposis	OMIM:614328
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Intestinal malrotation, Pyloric stenosis, Congenital shortened small intestine, Intestinal pseudo...	OMIM:300048
Trichothiodystrophy 3, Photosensitive	Trichorrhexis nodosa, Brittle hair, Meckel diverticulum, Tiger tail banding, Bilateral cryptorchi...	OMIM:616395
Hyperlipoproteinemia, Type I	Lactescent serum, Hypercholesterolemia, Hyperlipidemia, Increased circulating chylomicron concent...	OMIM:238600
Dysbetalipoproteinemia	Hypertriglyceridemia, Xanthelasma, Decreased HDL cholesterol concentration, Increased LDL cholest...	ORPHA:412
Fanconi Anemia, Complementation Group F	Decreased response to growth hormone stimulation test, Hyperpigmentation of the skin, Microphallu...	OMIM:603467
Congenital Tufting Enteropathy	Abnormal large intestinal mucosa morphology, Steatorrhea, Elevated fecal osmolality, Abnormal sma...	ORPHA:92050
Distal Deletion 12Q	Obsessive-compulsive trait, Annular pancreas, High, narrow palate, Esophageal atresia, Small nail...	ORPHA:96149
Muenke Syndrome	Hypopigmented skin patches, Hypermelanotic macule, High, narrow palate, Hypopigmentation of hair,...	ORPHA:53271
Congenital Disorder Of Glycosylation, Type Ih	Hypoalbuminemia, Elevated circulating creatinine concentration, Cryptorchidism, Protein-losing en...	OMIM:608104
Fryns Syndrome	Aganglionic megacolon, Hypospadias, Facial hirsutism, Small nail, Meckel diverticulum, Esophageal...	OMIM:229850
Mosaic Variegated Aneuploidy Syndrome 2	Decreased response to growth hormone stimulation test, Cafe-au-lait spot, Sparse hair, Craniosyno...	OMIM:614114
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Protein-losing enteropathy, Abnormal fallopian tube morphology, Hypocalcemia, Pancreatic lymphang...	ORPHA:1655
Abdominal Obesity-Metabolic Syndrome 3	Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia	OMIM:615812
Prader-Willi Syndrome	Osteopenia, Decreased response to growth hormone stimulation test, External genital hypoplasia, P...	ORPHA:739
Tremor, Nystagmus, And Duodenal Ulcer	Duodenal ulcer	OMIM:190310
Oculocutaneous Albinism Type 1	Iris transillumination defect, Generalized hypopigmentation, Iris hypopigmentation, White eyelash...	ORPHA:352731
Zollinger-Ellison Syndrome	Peptic ulcer, Duodenal ulcer, Gastrointestinal hemorrhage, Intestinal obstruction, Pituitary grow...	ORPHA:913
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Duodenal ulcer, Steatorrhea	ORPHA:3217
Congenital Disorder Of Glycosylation, Type Ib	Hypoalbuminemia, Steatorrhea, Protein-losing enteropathy, Villous atrophy	OMIM:602579
Annular Pancreas	High intestinal obstruction, Annular pancreas, Duodenal stenosis	ORPHA:675
Pancreas, Annular	High intestinal obstruction, Annular pancreas, Duodenal stenosis	OMIM:167750
Oculocerebrorenal Syndrome Of Lowe	Narrow palate, Hypokalemia, Azoospermia, Gastroesophageal reflux, Generalized hypopigmentation, O...	ORPHA:534
47,Xyy Syndrome	Hypospadias, Azoospermia, Hyperactivity, Oligozoospermia, Impulsivity, Varicocele, Attention defi...	ORPHA:8
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Protein-losing enteropathy, Hypocalcemia, Hypoproteinemia, Pancreatic lymphangiectasis, High pala...	OMIM:235255
Oculocutaneous Albinism Type 2	Blue irides, Iris transillumination defect, Hypopigmentation of hair, Hyperpigmented nevi, Hypopi...	ORPHA:79432
Carney Complex, Type 1	Multiple lentigines, Red hair, Pheochromocytoma, Hirsutism, Thyroid follicular hyperplasia, Profu...	OMIM:160980
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Osteopenia, Duodenal ulcer, Rectal prolapse, Esophageal food impaction, Gastroesophageal reflux, ...	OMIM:147060
Dyrk1A-Related Intellectual Disability Syndrome	Breast hypoplasia, Hypospadias, Gastroesophageal reflux, Hyperactivity, Anterior pituitary hypopl...	ORPHA:464306
Mpi-Cdg	Hypoalbuminemia, Gastrointestinal hemorrhage, Protein-losing enteropathy	ORPHA:79319
Feingold Syndrome	Annular pancreas, Esophageal atresia, Duodenal atresia	ORPHA:1305
Sitosterolemia 1	Xanthelasma, Elevated circulating sitosterol concentration, Reduced haptoglobin level, Hyperapobe...	OMIM:210250
Attenuated Familial Adenomatous Polyposis	Neoplasm of the stomach, Colorectal polyposis, Rectal polyposis, Adenocarcinoma of the colon, Lar...	ORPHA:220460
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Annular pancreas, Broad eyebrow, Hypospadias, Small nail, Gastroesophageal reflux, Duodenal atres...	OMIM:616975
Mosaic Variegated Aneuploidy Syndrome	Intestinal polyposis, Stomach cancer, Multiple cafe-au-lait spots, Vaginal neoplasm, Abnormality ...	ORPHA:1052
X-Linked Creatine Transporter Deficiency	Aganglionic megacolon, Hyperactivity, Abnormal circulating creatine concentration, Ileus, Self-mu...	ORPHA:52503
Microform Holoprosencephaly	Hypoplasia of penis, Panhypopituitarism, Cleft palate, Ambiguous genitalia, Duodenal atresia	ORPHA:280200
Bardet-Biedl Syndrome 20	Hypercholesterolemia, Male hypogonadism, Micropenis, Bilateral cryptorchidism	OMIM:619471
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Cafe-au-lait spot, Osteopetrosis, Hypopigmentation of the skin, Hypopigmentation of hair	OMIM:618541
Hypoplasminogenemia	Duodenal ulcer, Abnormal fallopian tube morphology, Abnormality of the ovary, Cervicitis, Decreas...	ORPHA:722
Koolen-De Vries Syndrome	Narrow palate, High, narrow palate, Hypospadias, Hypopigmentation of hair, Abnormality of hair te...	ORPHA:96169
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Narrow palate, Rectal prolapse, Protein-losing enteropathy, Intestinal lymphangiectasia, Hyperact...	OMIM:235510
Mosaic Variegated Aneuploidy Syndrome 1	Hypospadias, Bifid scrotum, Cleft palate, Ambiguous genitalia, Cryptorchidism, Micropenis, Duoden...	OMIM:257300
Gaisböck Syndrome	Hypertriglyceridemia, Peptic ulcer, Hyperuricemia, Increased circulating renin level, Hyperprotei...	ORPHA:90041
Familial Adenomatous Polyposis 4	Gastric adenocarcinoma, Ovarian cyst, Adenomatous colonic polyposis, Uterine leiomyoma, Duodenal ...	OMIM:617100
Steinert Myotonic Dystrophy	Obsessive-compulsive trait, Decreased response to growth hormone stimulation test, Hypercholester...	ORPHA:273
Oculocutaneous Albinism Type 1B	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation, Abnormality of ret...	ORPHA:79434
Diets-Jongmans Syndrome	Aggressive behavior, Hypospadias, Attention deficit hyperactivity disorder, Cryptorchidism, Duode...	OMIM:618846
Spastic Paraplegia 29, Autosomal Dominant	Hyperactivity, Neonatal hyperbilirubinemia, Hiatus hernia	OMIM:609727
Serkal Syndrome	Malrotation of small bowel, Abnormal penis morphology, Hypospadias, Sex reversal	ORPHA:139466
Down Syndrome	Narrow palate, Aganglionic megacolon, Gastroesophageal reflux, Anal atresia, Protruding tongue, S...	ORPHA:870
Multiple Endocrine Neoplasia Type 1	Hematemesis, Duodenal ulcer, Neoplasm of the pancreas, Reduced bone mineral density, Pheochromocy...	ORPHA:652
Diarrhea 10, Protein-Losing Enteropathy Type	Hypertriglyceridemia, Protein-losing enteropathy, Hypocalcemia, Hyponatremia, Hypomagnesemia, Hem...	OMIM:618183
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Hypospadias, Gastroesophageal reflux, Motor stereotypy, Attention deficit hyperactivity disorder,...	ORPHA:464311
Spondyloocular Syndrome	Osteopenia, Duodenal ulcer, Low posterior hairline, Unilateral cryptorchidism, Thin bony cortex	OMIM:605822
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Hyperactivity, Macroorchidism, Elevated circulating growth hormone concentration, Aggressive beha...	ORPHA:85327
Lysosomal Acid Lipase Deficiency	Hypertriglyceridemia, Xanthelasma, Steatorrhea, Hyperkalemia, Esophageal varix, Hyponatremia, Hyp...	ORPHA:275761
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Hypopigmented skin patches, High, narrow palate, Hypopigmentation of hair, Hyperpigmentation of t...	ORPHA:3214
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Rectal polyposis, Small intestinal polyposis, Hematochezia, Adenomatous colonic polyposis, Duoden...	ORPHA:329971
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Premature graying of hair, Hypopigmented skin patches, Aganglionic megacolon, Hypopigmentation of...	ORPHA:163746
Syndromic Diarrhea	Trichorrhexis nodosa, Abnormality of iron homeostasis, Gastritis, Villous atrophy, Hypopigmentati...	ORPHA:84064
Jacobsen Syndrome	Annular pancreas, Ectopic anus, Abnormality of the anus, Intestinal malrotation, Pyloric stenosis...	ORPHA:2308
Focal Dermal Hypoplasia	Gastroesophageal reflux, Duodenal atresia, Abnormality of the nail, Abnormality of skin pigmentat...	ORPHA:2092
Congenital Disorder Of Glycosylation, Type Iiaa	Hyperammonemia, Hypercholesterolemia	OMIM:620454
Juvenile Polyposis Of Infancy	Gastrointestinal hemorrhage, Rectal prolapse, Protein-losing enteropathy, Melena, High, narrow pa...	ORPHA:79076
Plasminogen Deficiency, Type I	Duodenal ulcer, Decreased level of plasminogen	OMIM:217090
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Hypospadias, Craniosynostosis, Microphallus, Motor stereotypy, Self-injurious behavior, Cryptorch...	ORPHA:468631
Ermine Phenotype	Hypopigmented skin patches, Irregular hyperpigmentation, Hypopigmentation of hair, Iris hypopigme...	ORPHA:999
Stromme Syndrome	Intestinal malrotation, Cleft palate, Jejunal atresia, Duodenal atresia	OMIM:243605
Lowe Oculocerebrorenal Syndrome	Rickets, Bicarbonaturia, Elevated circulating creatine kinase concentration, Motor stereotypy, Os...	OMIM:309000
Oculocutaneous Albinism Type 1A	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation, Albinism, Frecklin...	ORPHA:79431
Mungan Syndrome	Hypoperistalsis, Barrett esophagus, Intestinal pseudo-obstruction, Megaduodenum	OMIM:611376
Prader-Willi Syndrome Due To Translocation	Abnormal temper tantrums, Decreased response to growth hormone stimulation test, External genital...	ORPHA:177907
Hypohidrotic Ectodermal Dysplasia	Irregular hyperpigmentation, Trichorrhexis nodosa, Breast aplasia, Abnormality of the nail, Abnor...	ORPHA:238468
Hoyeraal-Hreidarsson Syndrome	Premature graying of hair, Nail dystrophy, Sparse scalp hair, Oral leukoplakia, Generalized hyper...	ORPHA:3322
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Multiple lentigines, Loose anagen hair, Hyperpigmentation of the skin, Hyperactivity, Myelofibros...	OMIM:607721
Albinism, Oculocutaneous, Type Ia	Hypopigmentation of hair, Ocular albinism, White hair, Albinism, Blue irides, Absent skin pigment...	OMIM:203100
Coffin-Siris Syndrome 1	Duodenal ulcer, Clitoral hypertrophy, Aplasia of the uterus, Intestinal malrotation, Intussuscept...	OMIM:135900
Congenital Tracheal Stenosis	Meckel diverticulum, Abnormal gastrointestinal tract morphology, Anal atresia, Tracheoesophageal ...	ORPHA:141127
Gardner Syndrome	Neoplasm of the pancreas, Gastrointestinal carcinoma, Adenomatous colonic polyposis, Pilomatrixom...	ORPHA:79665
Miller-Dieker Lissencephaly Syndrome	Cryptorchidism, Cleft palate, Duodenal atresia	OMIM:247200
Feingold Syndrome Type 1	Gastrointestinal atresia, Esophageal atresia, Anal atresia, Jejunal atresia, Duodenal atresia	ORPHA:391641
Visceral Myopathy 1	Thinning of outer muscular layer of small bowel, Aganglionic megacolon, Intestinal pseudo-obstruc...	OMIM:155310
Degcags Syndrome	Premature graying of hair, Hypopigmentation of the skin, Low posterior hairline, Choking episodes...	OMIM:619488
Immunodeficiency 82 With Systemic Inflammation	Anorexia, Duodenal ulcer, Villous atrophy, Gastritis, Anoperineal fistula, Elevated circulating C...	OMIM:619381
Lipodystrophy, Familial Partial, Type 7	Hypertriglyceridemia, Sparse scalp hair, Dysphagia, Sparse hair, Hypercholesterolemia, Pigmentary...	OMIM:606721
Primary Intestinal Lymphangiectasia	Intestinal lymphangiectasia, Hypocalcemia, Functional abnormality of the gastrointestinal tract, ...	ORPHA:90362
Feingold Syndrome 1	Annular pancreas, Gastrointestinal atresia, Esophageal atresia, High palate, Tracheoesophageal fi...	OMIM:164280
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Annular pancreas, Hypospadias, Esophageal atresia, Meckel diverticulum, Congenital shortened smal...	OMIM:265380
Cog8-Cdg	Protein-losing enteropathy	ORPHA:95428
Hermansky-Pudlak Syndrome	Anorexia, Gastrointestinal hemorrhage, Hypopigmentation of hair, Hypopigmentation of the skin, Lo...	ORPHA:79430
Brittle Cornea Syndrome	Cleft palate, Abnormality of hair pigmentation, Osteoporosis	ORPHA:90354
Immunodeficiency 47	Hypercholesterolemia, Decreased circulating copper concentration	OMIM:300972
Juvenile Polyposis Syndrome	Gastrointestinal hemorrhage, Neoplasm of the pancreas, Protein-losing enteropathy, Stomach cancer...	ORPHA:2929
Apc-Related Attenuated Familial Adenomatous Polyposis	Neoplasm of the pancreas, Gastrointestinal carcinoma, Duodenal polyposis, Adenomatous colonic pol...	ORPHA:247806
Smith-Lemli-Opitz Syndrome	Clitoral hypertrophy, Aganglionic megacolon, Ambiguous genitalia, Hypospadias, Hypopigmentation o...	ORPHA:818
Metachromatic Leukodystrophy	Abnormal stomach morphology, Addictive behavior, Abnormal duodenum morphology, Neoplasm of the ga...	ORPHA:512
Microvillus Inclusion Disease	Abnormal small intestinal villus morphology, Villous atrophy	ORPHA:2290
Vici Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin, Elevated circulating creatine kinase conc...	OMIM:242840
Alagille Syndrome 1	Hypertriglyceridemia, Hepatocellular carcinoma, Hypercholesterolemia, Pigmentary retinopathy	OMIM:118450
Charge Syndrome	Decreased response to growth hormone stimulation test, External genital hypoplasia, Hypoparathyro...	OMIM:214800
Brittle Cornea Syndrome 1	Red hair	OMIM:229200
Cystinosis, Nephropathic	Polydipsia, Rickets, Hypophosphatemic rickets, Hypopigmentation of hair, Reduced blood urea nitro...	OMIM:219800
Tarp Syndrome	Glossoptosis, Tongue nodules, Cleft palate, Abnormal hair pattern, Thick eyebrow, Abnormal duoden...	ORPHA:2886
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion	Duodenal polyposis, Adenomatous colonic polyposis, High palate, Low posterior hairline, Colon can...	ORPHA:261584
Cat Eye Syndrome	Rectal fistula, Anal stenosis, Meckel diverticulum, Anal atresia, Intestinal malrotation, Volvulu...	OMIM:115470
Immunodeficiency 31C	Osteopenia, Protein-losing enteropathy, Gastrointestinal eosinophilia, Intussusception, Villous a...	OMIM:614162
Autosomal Recessive Faciodigitogenital Syndrome	Dry hair, Hypopigmentation of hair, High palate, Shawl scrotum, Coarse hair, Widow's peak	ORPHA:1974
Fanconi Anemia	Irregular hyperpigmentation, Reduced bone mineral density, Meckel diverticulum, Tracheoesophageal...	ORPHA:84
Pericardial And Diaphragmatic Defect	Meckel diverticulum, Intestinal malrotation, Abnormal gastrointestinal tract morphology	ORPHA:2847
Fraser Syndrome 1	Clitoral hypertrophy, Hypospadias, Small nail, Absent eyelashes, Bicornuate uterus, Absent eyebro...	OMIM:219000
Scedosporiosis	Abnormal jejunum morphology	ORPHA:449280
Whim Syndrome	Abnormal small intestine morphology, Parotitis, Vitiligo, Cervix cancer	ORPHA:51636
Holoprosencephaly 13, X-Linked	Gastroesophageal reflux, Median cleft palate, Cleft palate, Submucous cleft hard palate, Duodenal...	OMIM:301043
Menke-Hennekam Syndrome 2	Duodenal ulcer	OMIM:618333
Familial Adenomatous Polyposis 1	Duodenal polyposis, Hyperpigmentation of the skin, Adenomatous colonic polyposis, Small intestine...	OMIM:175100
Townes-Brocks Syndrome 1	Anal stenosis, Hypospadias, Rectovaginal fistula, Gastroesophageal reflux, Bifid scrotum, Tracheo...	OMIM:107480
Chediak-Higashi Syndrome	Hypopigmentation of hair, Silver-gray hair, Hypopigmentation of the skin, Giant melanosomes in me...	OMIM:214500
Histidinemia	Hyperactivity, Hyperhistidinemia	ORPHA:2157
Chédiak-Higashi Syndrome	Hypertriglyceridemia, Hypopigmentation of hair, Hypoproteinemia, Hypopigmentation of the skin, La...	ORPHA:167
Dextrocardia	Meckel diverticulum, Intestinal malrotation, Pancreatic hypoplasia, Abnormal reproductive system ...	ORPHA:1666
Oculocerebral Hypopigmentation Syndrome, Cross Type	Iris hypopigmentation, Cryptorchidism, Hypopigmentation of hair, Ocular albinism	ORPHA:2719
Heterotaxy, Visceral, 1, X-Linked	Posteriorly placed anus, Duodenal atresia, Anal atresia, Hypoplastic toenails	OMIM:306955
Biliary, Renal, Neurologic, And Skeletal Syndrome	Osteopenia, Gastroesophageal reflux, Hyperbilirubinemia, Anterior pituitary hypoplasia, Esophagea...	OMIM:619534
Familial Adenomatous Polyposis	Pancreatic adenocarcinoma, Duodenal polyposis, Colorectal polyposis, Stomach cancer, Adenomatous ...	ORPHA:733
Autosomal Recessive Polycystic Kidney Disease	Polydipsia, Gastrointestinal hemorrhage, Protein-losing enteropathy, Increased serum bile acid co...	ORPHA:731
Acrocephalopolydactylous Dysplasia	Hypoplasia of the small intestine, Craniosynostosis, Pancreatic fibrosis, Hypoplastic colon	OMIM:200995
Iniencephaly	Anal atresia, Duodenal atresia	ORPHA:63259
Menkes Disease	Gastrointestinal hemorrhage, Hypopigmentation of hair, Woolly hair, Osteoporosis, Sparse hair	ORPHA:565
Heterotaxy, Visceral, 5, Autosomal	Intestinal malrotation, Duodenal atresia	OMIM:270100
Liver Disease, Severe Congenital	Nail dystrophy, Protein-losing enteropathy, Hypospadias, Hypocalcemia, Hyperbilirubinemia, Chroni...	OMIM:619991
Genitopatellar Syndrome	Clitoral hypertrophy, Enlarged labia minora, Anal stenosis, Labial hypoplasia, Sparse scalp hair,...	OMIM:606170
Duane Retraction Syndrome	Irregular hyperpigmentation, Hypopigmented skin patches, Anorectal anomaly, Low posterior hairlin...	ORPHA:233
Mosaic Trisomy 16	Abnormality of the gastrointestinal tract, Hypospadias, Meckel diverticulum, Profuse pigmented sk...	ORPHA:1708
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	High palate, Intestinal malrotation, Cleft palate, Abnormal duodenum morphology, Cryptorchidism, ...	OMIM:601776
Homozygous Familial Hypercholesterolemia	Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia	ORPHA:391665

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 Ak4

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 Ak4.

No publications found that use IMPC mice or data for Ak4.

Order Mouse and ES Cells

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MGI Allele	Allele Type	Produced
Ak4^{em1(IMPC)Kmpc}	Exon Deletion	Mice
Ak4^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Ak4^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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