Gene Summary

Name:
adenylate kinase 4
Synonyms:
D4Ertd274e,  Ak3l1,  Ak-4,  Ak-3

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 Ak4em1(IMPC)Kmpc HOM Late adult 8.76×10-05
abnormal seminal vesicle morphology Ak4em1(IMPC)Kmpc HOM Late adult 0.00
abnormal coat/ hair morphology Ak4em1(IMPC)Kmpc HOM Late adult 1.78×10-05
abnormal ileum morphology Ak4em1(IMPC)Kmpc HOM Late adult 0.00
abnormal coat/hair pigmentation Ak4em1(IMPC)Kmpc HOM Late adult 1.72×10-08
abnormal duodenum morphology Ak4em1(IMPC)Kmpc HOM Late adult 0.00
increased circulating LDL cholesterol level Ak4em1(IMPC)Kmpc HOM Late adult 2.74×10-09
increased circulating cholesterol level Ak4em1(IMPC)Kmpc HOM Late adult 1.14×10-05
hyperactivity Ak4em1(IMPC)Kmpc HOM   Late adult 6.42×10-06
decreased bone mineral content Ak4em1(IMPC)Kmpc HOM   Early adult 7.28×10-06

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Viewing: all phenotypes

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

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.

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 Similarity of
phenotypes
Matching phenotypes Source
Cystic Angiomatosis Of Bone, Diffuse
Cystic angiomatosis of bone OMIM:123880
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... ORPHA:79506
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Protein-losing enteropathy, Villous atrophy, Hyperlipidemia, Hypercholesterolemia OMIM:615863
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Griscelli Syndrome, Type 1
Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Large... OMIM:214450
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration 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
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Glycogen Storage Disease Vi
Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:232700
Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia
Aggressive behavior, Increased LDL cholesterol concentration, Fair hair OMIM:618808
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Azoospermia, Hy... 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
Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:603813
Tietz Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, White eyebrow, Abnormality of skin pigmen... ORPHA:42665
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Increased total bilirubin, Increased serum bile acid concentration, Hypercholest... OMIM:619868
Autoinflammatory Disease, Familial, Behcet-Like 3
Vaginal mucosal ulceration, Ileitis OMIM:618287
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
Hidrotic Ectodermal Dysplasia
Generalized hypotrichosis, Alopecia, Sparse pubic hair, Brittle scalp hair, Sparse eyebrow, Fine ... ORPHA:189
Alazami-Yuan Syndrome
Highly arched eyebrow, Long eyelashes, Thick eyebrow, Cryptorchidism, Low anterior hairline, Hirs... OMIM:617126
Hyperinsulinemic Hypoglycemia, Familial, 8
Attention deficit hyperactivity disorder, Increased C-peptide level, Hypercholesterolemia, Hypera... OMIM:620211
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Esophageal varix, Hypertriglyceridemia ORPHA:75234
Analbuminemia
Hypoalbuminemia, Increased LDL cholesterol concentration, Elevated circulating transferrin concen... OMIM:616000
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Waardenburg-Shah Syndrome
Premature graying of hair, Abnormal eyebrow morphology, White forelock, Abnormality of retinal pi... ORPHA:897
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Waardenburg Syndrome, Type 4B
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Agan... OMIM:613265
Congenital Generalized Lipodystrophy
Clitoral hypertrophy, Precocious puberty in females, Hypertrichosis, Overgrowth of external genit... ORPHA:528
Coffin-Siris Syndrome 8
Self-injurious behavior, Hypertrichosis, Long eyelashes, Thick eyebrow, Cryptorchidism, Aggressiv... OMIM:618362
Lipodystrophy, Congenital Generalized, Type 3
Hirsutism, Hypercholesterolemia, Hypocalcemia, Hypertriglyceridemia OMIM:612526
Smith-Magenis Syndrome
Head-banging, Velopharyngeal insufficiency, Onychotillomania, Self-mutilation, Hypercholesterolem... OMIM:182290
Alpha-Heavy Chain Disease
Alopecia, Abnormal small intestine morphology, Hypocalcemia ORPHA:100025
Waardenburg Syndrome Type 2
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Agan... ORPHA:895
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:606952
Intellectual Developmental Disorder, X-Linked 109
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... OMIM:309548
Pancreatic Lipase Deficiency
Steatorrhea, Hypocholesterolemia, Fat malabsorption OMIM:614338
Waardenburg Syndrome, Type 2F
Hypopigmentation of the skin, White hair, Premature graying of hair, White forelock, Heterochromi... OMIM:619947
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Clitoral hypertrophy, Small nail, Decreased testicular size, External genital hypoplasia, Nail dy... OMIM:610644
Fraxe Intellectual Disability
Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv... ORPHA:100973
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Generalized hyperpigmentation, Hypospadias ORPHA:1355
Woolly Hair
Sparse lateral eyebrow, Fine hair, Sparse body hair, Slow-growing hair, Brittle hair, Abnormality... ORPHA:170
Piebald Trait-Neurologic Defects Syndrome
Irregular hyperpigmentation, Hypopigmented skin patches, Abnormal eyebrow morphology, Heterochrom... ORPHA:2885
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Phenylketonuria
Fair hair, Self-mutilation, Maternal hyperphenylalaninemia, Attention deficit hyperactivity disor... OMIM:261600
Chylomicron Retention Disease
Hypoalbuminemia, Hypotriglyceridemia, Hypocholesterolemia, Accumulation of lipid droplets in smal... OMIM:246700
Griscelli Syndrome, Type 2
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:607624
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Bruxism, Gastroesophageal reflux, Hyperactivity, Hirsutism OMIM:300434
Temple Syndrome
Precocious puberty, Bifid uvula, Decreased testicular size, Cryptorchidism, Hypercholesterolemia,... OMIM:616222
Uncombable Hair Syndrome
Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Morgagni-Stewart-Morel Syndrome
Hyperuricemia, Hirsutism, Hypercholesterolemia, Osteoporosis, Hyperostosis frontalis interna ORPHA:77296
Fg Syndrome 3
Fine hair, Frontal upsweep of hair, Cryptorchidism, Hyperactivity, Sparse hair, Pyloric stenosis OMIM:300406
Multiple Intestinal Atresia
Gastrointestinal atresia, Duodenal stenosis ORPHA:2300
Martinez-Frias Syndrome
Annular pancreas, Pancreatic hypoplasia, Intestinal malrotation, Jejunal atresia, Tracheoesophage... OMIM:601346
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Albinism, Osteoporosis, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:2786
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Partial albinism, Hypopigmentation of hair ORPHA:90023
Griscelli Syndrome Type 3
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation ORPHA:79478
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Precocious puberty, Bifid uvula, Cryptorchidism, Hypercholesterolemia, High palate, Cleft palate,... ORPHA:96184
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Precocious puberty, High palate, Hypercholesterolemia ORPHA:254531
Albinism, Oculocutaneous, Type Iv
Albinism, Hypopigmentation of hair, Blue irides OMIM:606574
Hepatic Lipase Deficiency
Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:614025
Mandibuloacral Dysplasia
Alopecia, Increased circulating free fatty acid level, Abnormal tongue morphology, Hypoplastic fi... ORPHA:2457
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Citrullinemia Type Ii
Hypoalbuminemia, Decreased HDL cholesterol concentration, Abnormal eating behavior, Hyperlipidemi... ORPHA:247585
Hypercholanemia, Familial 1
Steatorrhea, Fat malabsorption, Rickets, Increased serum bile acid concentration OMIM:607748
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Fat malabsorption, Hypoproteinemia, Jejunoileal ulceration, Small bowel diverticula OMIM:221400
Mitchell-Riley Syndrome
Meckel diverticulum, Annular pancreas, Anteriorly placed anus, Pancreatic hypoplasia, Intestinal ... OMIM:615710
Prader-Willi Syndrome Due To Imprinting Mutation
Iris hypopigmentation, Hypopigmentation of the skin, External genital hypoplasia, Polyphagia, Hyp... ORPHA:177910
Congenital Disorder Of Glycosylation, Type Iio
Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulating creatine kina... OMIM:616828
Inflammatory Bowel Disease (Crohn Disease) 30
Protein-losing enteropathy, Esophagitis, Pancolitis, Ileitis, Abnormal intestine morphology, Gast... OMIM:619079
Cog4-Cdg
Recurrent infection of the gastrointestinal tract, Hypercholesterolemia, Thick hair ORPHA:263501
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Protein-losing enteropathy, Alopecia, Hematochezia, Xerostomia, Gastrointestinal carcinoma, Hypom... OMIM:175500
Glycine Encephalopathy 1
Hyperglycinemia, Aggressive behavior, Hyperactivity, Restlessness, Impulsivity OMIM:605899
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hyperuricemia, Hypertriglyceridemia OMIM:306000
Bile Acid Malabsorption, Primary, 1
Steatorrhea, Increased fecal bile acid, Fat malabsorption OMIM:613291
Waardenburg Syndrome, Type 4A
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Agan... OMIM:277580
Visceral Myopathy 2
Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m... 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
Griscelli Syndrome Type 1
Iris hypopigmentation, White hair, Premature graying of hair, Partial albinism, Hyperlipidemia ORPHA:79476
Secondary Short Bowel Syndrome
Volvulus, Villous atrophy, Abnormal small intestine morphology, Aganglionic megacolon, Small inte... ORPHA:95427
Vascular Hyalinosis
Protein-losing enteropathy, Hematochezia, Premature graying of hair OMIM:277175
Woolly Hair Nevus
Congenital posterior occipital alopecia, Precocious puberty, Fine hair, Woolly scalp hair, Hetero... ORPHA:79414
Congenital Short Bowel Syndrome
Congenital shortened small intestine, Decreased intestinal transit time, Intestinal malrotation, ... OMIM:615237
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Iris hypopigmentation, Hypopigmentation of the skin, Inappropriate laughter, Polyphagia, Hyperact... ORPHA:411515
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Protein-losing enteropathy, Hyperglycinemia OMIM:619063
Waardenburg Syndrome
Hypopigmented skin patches, Abnormal vagina morphology, Premature graying of hair, Abnormality of... ORPHA:3440
Acrodysostosis 2 With Or Without Hormone Resistance
Fair hair, Cryptorchidism, Blue irides, Hyperactivity, Red hair, Advanced ossification of carpal ... OMIM:614613
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of the skin, Freckles in sun-exposed areas, Blue irides, Albinism, Red hair, Hyp... OMIM:203200
Smith-Magenis Syndrome
Self-injurious behavior, Precocious puberty, Gastroesophageal reflux, Attention deficit hyperacti... ORPHA:819
Intellectual Developmental Disorder, Autosomal Dominant 67
Gastroesophageal reflux, Attention deficit hyperactivity disorder, Motor tics, Hyperactivity, Com... OMIM:619927
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Hypertrichosis, Submucous cleft hard palate, Low posterior hairline, Attention deficit hyperactiv... OMIM:619227
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:619165
Neuroectodermal Melanolysosomal Disease
Hypopigmentation of hair, Hypopigmentation of the skin, Generalized hyperpigmentation, Premature ... ORPHA:33445
Hypercholesterolemia, Familial, 3
Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration OMIM:603776
Waardenburg Syndrome Type 1
Hypopigmented skin patches, White hair, Premature graying of hair, Abnormal hair morphology, Thic... ORPHA:894
Piebaldism
Hypopigmented skin patches, White forelock, Heterochromia iridis, Aganglionic megacolon, White ey... ORPHA:2884
Cholestasis, Progressive Familial Intrahepatic, 8
Increased serum bile acid concentration, Hypercholesterolemia, Conjugated hyperbilirubinemia, Bil... OMIM:619662
Waardenburg Syndrome, Type 2A
Premature graying of hair, Partial albinism, White forelock, Numerous pigmented freckles, Heteroc... OMIM:193510
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hematochezia, Ileal atresia, Colonic atresia, Intestinal malrotation, Intestinal obstruction, Jej... OMIM:243150
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Diarrhea 12, With Microvillus Atrophy
Osteopenia, Villous atrophy, Microvillus inclusions, Microvillar PAS-positive secretory granules OMIM:619445
Elejalde Neuroectodermal Melanolysosomal Syndrome
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:256710
Prader-Willi Syndrome
Self-injurious behavior, Precocious puberty, Small scrotum, Osteopenia, Decreased HDL cholesterol... OMIM:176270
Diarrhea 5, With Tufting Enteropathy, Congenital
Villous atrophy, Crypt hyperplasia OMIM:613217
Trigonocephaly 1
High, narrow palate, Long penis, Meckel diverticulum, Craniosynostosis, Synophrys OMIM:190440
Acquired Hypertrichosis Lanuginosa
Fine hair, Abnormal eyebrow morphology, Generalized hirsutism, Glossitis, Macroglossia, Hypopigme... ORPHA:2221
Laron Syndrome
Hypoplasia of penis, Hypercholesterolemia ORPHA:633
Obesity And Hypopigmentation
Red hair, Polyphagia OMIM:620195
Duodenal Atresia
Duodenal atresia OMIM:223400
Citrullinemia, Type Ii, Neonatal-Onset
Hypermethioninemia, Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemi... OMIM:605814
2Q23.1 Microdeletion Syndrome
Self-injurious behavior, Highly arched eyebrow, Cryptorchidism, Generalized hirsutism, Polyphagia... ORPHA:228402
Neuhauser Syndrome
Bifid uvula, Osteopenia, Low anterior hairline, Hypercholesterolemia, Iris transillumination defe... OMIM:249310
Isolated Thyroid-Stimulating Hormone Deficiency
Neonatal hyperbilirubinemia, Increased circulating prolactin concentration, Goiter, Abnormal circ... ORPHA:90674
9Q31.1Q31.3 Microdeletion Syndrome
Highly arched eyebrow, Hypercholesterolemia, Thick hair ORPHA:401923
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypoalbuminemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Dyspha... ORPHA:64753
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Abnormal circulating eicosanoid concentration, Decreased serum thromboxane B2, Decreased circulat... OMIM:618372
Congenital Enterocyte Heparan Sulfate Deficiency
Hypoalbuminemia, Protein-losing enteropathy, Hematochezia, Abnormal circulating protein concentra... ORPHA:103910
Trichohepatoenteric Syndrome 2
Decreased circulating iron concentration, Trichorrhexis nodosa, Villous atrophy, Woolly hair, Unc... OMIM:614602
Obesity Due To Prohormone Convertase I Deficiency
Hypopigmentation of the skin, Decreased response to growth hormone stimulation test, Gonadotropin... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypopigmentation of the skin, Decreased response to growth hormone stimulation test, Gonadotropin... ORPHA:71526
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:301008
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Hypermethioninemia, Abnorm... ORPHA:247598
Squalene Synthase Deficiency
Bilateral cryptorchidism, Hypocholesterolemia, Abnormality of hair pigmentation, Decreased LDL ch... OMIM:618156
Piebald Trait
Partial albinism, White forelock, Absent pigmentation of the ventral chest, Heterochromia iridis,... OMIM:172800
Cholesteryl Ester Storage Disease
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia, Decreased HD... OMIM:278000
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased response to growth hormone stimulation test, Hyperbilirubinemia, Decreased growth hormo... OMIM:609734
Nephrotic Syndrome, Type 11
Hypoalbuminemia, High palate, Hypercholesterolemia, Cleft palate OMIM:616730
8p23.1 deletion syndrome
Hyperactivity, Cryptorchidism DECIPHER:39
Hypotrichosis 8
Sparse eyebrow, Dry hair, Coarse hair, Fair hair, Ridged nail, Sparse eyelashes, Sparse axillary ... OMIM:278150
Mandibuloacral Dysplasia With Type A Lipodystrophy
Osteopenia, Alopecia, Mottled pigmentation, Progressive clavicular acroosteolysis, Hyperlipidemia... OMIM:248370
Galactokinase Deficiency
Hypercholesterolemia, Hypergalactosemia, Hypergonadotropic hypogonadism, Increased level of galac... ORPHA:79237
Classic Phenylketonuria
Self-injurious behavior, Hypopigmentation of the skin, Attention deficit hyperactivity disorder, ... ORPHA:79254
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Protein-losing enteropathy, Hydrocele testis, Synophrys OMIM:618154
Primary Biliary Cholangitis
Hypoalbuminemia, Abnormal circulating lipid concentration, Xanthelasma, Hyperpigmentation of the ... ORPHA:186
Intellectual Developmental Disorder, Autosomal Recessive 38
Recurrent hand flapping, Self-mutilation, Aggressive behavior, Hyperactivity, Blue irides, Narrow... OMIM:615516
Nk-Cell Enteropathy
Hematochezia, Colonic diverticula, Gastroesophageal reflux, Stercoral ulcer, Abnormal gastric muc... ORPHA:263665
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Self-injurious behavior, Inappropriate behavior, Aggressive behavior, Attention deficit hyperacti... OMIM:619827
Waardenburg Syndrome, Type 4C
Hypopigmented skin patches, Lacrimal gland hypoplasia, Premature graying of hair, Hypogonadism, W... 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
Iris hypopigmentation, Generalized hypopigmentation of hair, Hypopigmentation of the skin, Absent... ORPHA:79433
Chronic Diarrhea Due To Glucoamylase Deficiency
Abnormal small intestinal mucosa morphology, Decreased small intestinal mucosa lactase level ORPHA:103907
Duodenal Atresia
Annular pancreas, Duodenal atresia ORPHA:1203
Griscelli Syndrome Type 2
Iris hypopigmentation, Premature graying of hair, Partial albinism, Hyperlipidemia, Hypopigmentat... ORPHA:79477
Ermine Phenotype
Spotty hyperpigmentation, White hair, Vitiligo, White eyebrow, White eyelashes, Abnormal iris pig... OMIM:227010
Eosinophilic Gastroenteritis
Hypoalbuminemia, Protein-losing enteropathy, Hematochezia, Abnormality of the gastrointestinal tr... ORPHA:2070
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Decreased circulating apolipoprotein C-II concentration, Increased circulat... OMIM:207750
Inverted Duplicated Chromosome 15 Syndrome
Precocious puberty, Gonadal dysgenesis, Hypogonadism, Cryptorchidism, Aggressive behavior, Hypera... ORPHA:3306
Megalocornea-Intellectual Disability Syndrome
Motor stereotypy, High palate, Osteopenia, Hypercholesterolemia ORPHA:2479
Angelman Syndrome Due To A Point Mutation
Iris hypopigmentation, Hypopigmentation of the skin, Inappropriate laughter, Abnormal eating beha... ORPHA:411511
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Polycystic ovaries, Hypercholesterolemia, Hyp... ORPHA:264580
Sim1-Related Prader-Willi-Like Syndrome
Precocious puberty, Abnormal temper tantrums, Small scrotum, Hypopigmentation of the skin, Xerost... ORPHA:398079
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Polycystic ovaries, Hypercholesterolemia, Hyp... ORPHA:79240
Intellectual Developmental Disorder, X-Linked 21
Macroorchidism, Hyperactivity, Impulsivity, Synophrys OMIM:300143
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Intellectual Developmental Disorder, Autosomal Dominant 53
Intestinal malrotation, Frontal upsweep of hair, Cryptorchidism, Gastrointestinal dysmotility, Mi... OMIM:617798
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Abnormal reproductive system morphology, Hypopigmentation of hair, Gastroesophageal reflux, Dysph... ORPHA:70472
Alg6-Cdg
Hypoalbuminemia, Protein-losing enteropathy, Decreased LDL cholesterol concentration, Macroglossia ORPHA:79320
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentration, Hypertriglycerid... ORPHA:567548
Refractory Celiac Disease
Hypoalbuminemia, Protein-losing enteropathy, Hypomagnesemia, Jejunitis, Villous atrophy, Hypocalc... ORPHA:398063
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Cholesterol gallstones, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertrigl... ORPHA:209902
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Aplasia of the thymus, Duodenal atresia ORPHA:3004
Bile Acid Synthesis Defect, Congenital, 1
Rickets, Hypocholesterolemia, Conjugated hyperbilirubinemia, Acholic stools, Steatorrhea, Fat mal... OMIM:607765
Fryns Syndrome
Gastroesophageal reflux, Hypoplastic fingernail, Intestinal malrotation, Cryptorchidism, Aganglio... ORPHA:2059
Ataxia-Telangiectasia
Premature graying of hair, Polycystic ovaries, Multiple cafe-au-lait spots, Abnormal testis morph... ORPHA:100
Magel2-Related Prader-Willi-Like Syndrome
Small scrotum, Xerostomia, Cryptorchidism, Polyphagia, Precocious puberty, Osteopenia, Gastroesop... ORPHA:398069
Galloway-Mowat Syndrome 7
High palate, Hypercholesterolemia, Cleft palate OMIM:618348
Congenital Contractural Arachnodactyly
Intestinal malrotation, High palate, Tracheoesophageal fistula, Duodenal atresia ORPHA:115
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Iris hypopigmentation, Hypopigmentation of the skin, Inappropriate laughter, Abnormal eating beha... ORPHA:98794
Lmna-Related Cardiocutaneous Progeria Syndrome
Alopecia universalis, Premature graying of hair, Absent eyelashes, Hypercholesterolemia, Absent e... ORPHA:363618
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Alopecia, Hypopigmentation of hair ORPHA:1067
Tremor-Nystagmus-Duodenal Ulcer Syndrome
Duodenal ulcer ORPHA:3350
Lysinuric Protein Intolerance
Osteopenia, Increased circulating ferritin concentration, Decreased HDL cholesterol concentration... ORPHA:470
Oculocutaneous Albinism Type 4
Iris hypopigmentation, Hypopigmentation of the skin, White hair, Ocular albinism, Abnormality of ... ORPHA:79435
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Small scrotum, Bulimia, Obsessive-compulsive trait, Cryptorchidism, Polyphagia, Anterior pituitar... ORPHA:98793
Hermansky-Pudlak Syndrome 1
Hematochezia, Inflammation of the large intestine, Hypopigmentation of the skin, Ocular albinism,... OMIM:203300
Pancreatic Colipase Deficiency
Steatorrhea, Cholelithiasis, Fat malabsorption ORPHA:309108
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Small scrotum, Bulimia, Obsessive-compulsive trait, Cryptorchidism, Polyphagia, Anterior pituitar... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Small scrotum, Bulimia, Obsessive-compulsive trait, Cryptorchidism, Polyphagia, Anterior pituitar... ORPHA:177901
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Small scrotum, Bulimia, Cryptorchidism, Polyphagia, Anterior pituitary hypoplasia, Self-injurious... ORPHA:98754
Ataxia With Vitamin E Deficiency
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:277460
Low Phospholipid-Associated Cholelithiasis
Neoplasm of the liver, Hypercholesterolemia, Cholelithiasis, Hepatocellular carcinoma ORPHA:69663
Agammaglobulinemia 4, Autosomal Recessive
Protein-losing enteropathy OMIM:613502
Alg1-Cdg
Hypoalbuminemia, Protein-losing enteropathy, Abnormality of the gastrointestinal tract ORPHA:79327
Fanconi Anemia, Complementation Group B
Hypogonadism, Tracheoesophageal fistula, Esophageal atresia, Micropenis, Duodenal atresia, Hyperg... OMIM:300514
Esophageal Atresia
Barrett esophagus, Gastrointestinal carcinoma, Gastroesophageal reflux, Intestinal malrotation, A... ORPHA:1199
Lipodystrophy, Familial Partial, Type 2
Labial pseudohypertrophy, Hypertriglyceridemia, Polycystic ovaries, Hirsutism, Hypercholesterolem... OMIM:151660
Fanconi Anemia, Complementation Group W
Decreased response to growth hormone stimulation test, Duodenal atresia OMIM:617784
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypopituitarism, Addictive alcohol use, Hypercholesterolemia ORPHA:90065
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Intestinal malrotation, Duodenal atresia OMIM:619608
Mucopolysaccharidosis, Type Iiic
Coarse hair, Dense calvaria, Hypertrichosis, Hirsutism, Hyperactivity, Dysphagia, Synophrys OMIM:252930
Congenital Analbuminemia
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Increased alpha-globulin ORPHA:86816
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Iris hypopigmentation, Hypopigmentation of the skin, Protruding tongue, Tongue thrusting, Hypopig... ORPHA:98795
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Osteopenia, Inflammation of the large intestine, Xanthelasma, Hyperlipidemia, Hyperuricemia, Poly... ORPHA:79259
Hermansky-Pudlak Syndrome 3
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:614072
Oculoskeletodental Syndrome
Protein-losing enteropathy, Hypocalcemia, Cryptorchidism, Low anterior hairline, Low posterior ha... OMIM:618440
Mucopolysaccharidosis, Type Iiib
Coarse hair, Dense calvaria, Hirsutism, Aggressive behavior, Hyperactivity, Synophrys OMIM:252920
Systemic Sclerosis
Barrett esophagus, Alopecia, Intestinal bleeding, Gastroesophageal reflux, Abnormal large intesti... ORPHA:90291
Inflammatory Skin And Bowel Disease, Neonatal, 1
Villous atrophy, Onychogryposis, Duodenitis, Paronychia OMIM:614328
Hyperlipoproteinemia, Type I
Lactescent serum, Hyperlipidemia, Increased circulating chylomicron concentration, Hypercholester... OMIM:238600
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal malrotation, Congenital shortened small intestine, Intestinal pseudo-obstruction, Pylo... OMIM:300048
Congenital Tufting Enteropathy
Abnormal large intestinal mucosa morphology, Villous atrophy, Abnormal small intestinal mucosa mo... ORPHA:92050
Dysbetalipoproteinemia
Xanthelasma, Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia,... ORPHA:412
Trichothiodystrophy 3, Photosensitive
Meckel diverticulum, Bilateral cryptorchidism, Trichorrhexis nodosa, Tiger tail banding, Brittle ... OMIM:616395
Fanconi Anemia, Complementation Group F
Microphallus, Decreased response to growth hormone stimulation test, Cryptorchidism, Hyperpigment... OMIM:603467
Distal Deletion 12Q
High, narrow palate, Microglossia, Annular pancreas, Small nail, Fine hair, Pituitary adenoma, Ob... ORPHA:96149
Muenke Syndrome
High, narrow palate, Coronal craniosynostosis, Hypopigmented skin patches, Hypopigmentation of ha... ORPHA:53271
Fryns Syndrome
Ectopic pancreatic tissue, Meckel diverticulum, Small nail, Bifid scrotum, Intestinal malrotation... OMIM:229850
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia, Elevated circulating creatinine concentration, Protein-losing enteropathy, Crypt... OMIM:608104
Mosaic Variegated Aneuploidy Syndrome 2
Decreased response to growth hormone stimulation test, Craniosynostosis, Sparse hair, Cafe-au-lai... OMIM:614114
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Steatorrhea, Duodenal ulcer ORPHA:3217
Abdominal Obesity-Metabolic Syndrome 3
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:615812
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia, Protein-losing enteropathy, Villous atrophy, Steatorrhea OMIM:602579
Prader-Willi Syndrome
Precocious puberty, Small scrotum, Small pituitary gland, Hypopigmentation of the skin, Xerostomi... ORPHA:739
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Protein-losing enteropathy, Abnormality of the uterus, Hypertrichosis, Pancreatic lymphangiectasi... ORPHA:1655
Tremor, Nystagmus, And Duodenal Ulcer
Duodenal ulcer OMIM:190310
Oculocutaneous Albinism Type 1
Iris hypopigmentation, Generalized hypopigmentation of hair, White eyebrow, White eyelashes, Gene... ORPHA:352731
Zollinger-Ellison Syndrome
Hematochezia, Gastrointestinal hemorrhage, Peptic ulcer, Pituitary adenoma, Increased circulating... ORPHA:913
Annular Pancreas
Annular pancreas, High intestinal obstruction, Duodenal stenosis ORPHA:675
Pancreas, Annular
Annular pancreas, High intestinal obstruction, Duodenal stenosis OMIM:167750
Oculocerebrorenal Syndrome Of Lowe
Self-injurious behavior, Hyperparathyroidism, Gastroesophageal reflux, Fine hair, Osteomalacia, H... ORPHA:534
Oculocutaneous Albinism Type 2
Iris hypopigmentation, Hypopigmentation of the skin, White hair, Abnormality of retinal pigmentat... ORPHA:79432
Carney Complex, Type 1
Pituitary adenoma, Multiple lentigines, Pheochromocytoma, Thyroid follicular hyperplasia, Hirsuti... OMIM:160980
47,Xyy Syndrome
Varicocele, Azoospermia, Cryptorchidism, Attention deficit hyperactivity disorder, Micropenis, Hy... ORPHA:8
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Osteopenia, Colonic diverticula, Gastroesophageal reflux, Gastric ulcer, Esophageal furrows, Odyn... OMIM:147060
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Protein-losing enteropathy, Hypertrichosis, Pancreatic lymphangiectasis, Hypocalcemia, Cryptorchi... OMIM:235255
Dyrk1A-Related Intellectual Disability Syndrome
Hypospadias, Gastroesophageal reflux, Breast hypoplasia, Cryptorchidism, Hyperactivity, Anterior ... ORPHA:464306
Feingold Syndrome
Esophageal atresia, Duodenal atresia, Annular pancreas ORPHA:1305
Mpi-Cdg
Hypoalbuminemia, Protein-losing enteropathy, Gastrointestinal hemorrhage ORPHA:79319
Sitosterolemia 1
Hyperapobetalipoproteinemia, Xanthelasma, Reduced haptoglobin level, Elevated circulating sitoste... OMIM:210250
Attenuated Familial Adenomatous Polyposis
Duodenal polyposis, Large intestinal polyposis, Adenomatous colonic polyposis, Adenocarcinoma of ... ORPHA:220460
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Gastroesophageal reflux, Annular pancreas, Small nail, Duodenal atresia, Furrowed tongue, Cryptor... OMIM:616975
Mosaic Variegated Aneuploidy Syndrome
Osteolysis, Vaginal neoplasm, Stomach cancer, Intestinal polyposis, Ambiguous genitalia, Multiple... ORPHA:1052
Microform Holoprosencephaly
Panhypopituitarism, Ambiguous genitalia, Hypoplasia of penis, Duodenal atresia, Cleft palate ORPHA:280200
Bardet-Biedl Syndrome 20
Micropenis, Male hypogonadism, Hypercholesterolemia, Bilateral cryptorchidism OMIM:619471
X-Linked Creatine Transporter Deficiency
Ileus, Self-mutilation, Aganglionic megacolon, Hyperactivity, Abnormal circulating creatine conce... ORPHA:52503
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Osteopetrosis, Hypopigmentation of hair, Hypopigmentation of the skin, Cafe-au-lait spot OMIM:618541
Koolen-De Vries Syndrome
High, narrow palate, Narrow palate, Cryptorchidism, Overfriendliness, Abnormality of hair texture... ORPHA:96169
Hypoplasminogenemia
Abnormality of the ovary, Decreased level of plasminogen, Abnormal fallopian tube morphology, Duo... ORPHA:722
Mosaic Variegated Aneuploidy Syndrome 1
Bifid scrotum, Cryptorchidism, Ambiguous genitalia, Micropenis, Hypospadias, Duodenal atresia, Cl... OMIM:257300
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Hypoalbuminemia, Protein-losing enteropathy, Coronal craniosynostosis, Intestinal lymphangiectasi... OMIM:235510
Gaisböck Syndrome
Peptic ulcer, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hyperproteinemia, Increa... ORPHA:90041
Steinert Myotonic Dystrophy
Abnormality of the tongue muscle, Alopecia, Male hypogonadism, Cholelithiasis, Intestinal pseudo-... ORPHA:273
Familial Adenomatous Polyposis 4
Gastric adenocarcinoma, Duodenal polyposis, Ovarian cyst, Adenomatous colonic polyposis, Uterine ... OMIM:617100
Oculocutaneous Albinism Type 1B
Iris hypopigmentation, Hypopigmentation of the skin, Melanocytic nevus, Abnormality of retinal pi... ORPHA:79434
Diets-Jongmans Syndrome
Cryptorchidism, Aggressive behavior, Attention deficit hyperactivity disorder, Hypospadias, Duode... OMIM:618846
Serkal Syndrome
Abnormal penis morphology, Malrotation of small bowel, Hypospadias, Sex reversal ORPHA:139466
Down Syndrome
Narrow palate, Macroglossia, Gastroesophageal reflux, Protruding tongue, Aganglionic megacolon, C... ORPHA:870
Diarrhea 10, Protein-Losing Enteropathy Type
Hypoalbuminemia, Protein-losing enteropathy, Hematochezia, Hypomagnesemia, Hypocalcemia, Cryptorc... OMIM:618183
Multiple Endocrine Neoplasia Type 1
Increased circulating cortisol level, Pituitary prolactin cell adenoma, Pituitary thyrotropic cel... ORPHA:652
Spastic Paraplegia 29, Autosomal Dominant
Hiatus hernia, Neonatal hyperbilirubinemia, Hyperactivity OMIM:609727
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Hypospadias, Gastroesophageal reflux, Cryptorchidism, Posterior pituitary hypoplasia, Attention d... ORPHA:464311
Spondyloocular Syndrome
Osteopenia, Low posterior hairline, Thin bony cortex, Unilateral cryptorchidism, Duodenal ulcer OMIM:605822
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
High, narrow palate, Iris hypopigmentation, Hypopigmented skin patches, Hyperpigmentation of the ... ORPHA:3214
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Aggressive behavior, Macroorchidism, Hyperactivity, Elevated circulating growth hormone concentra... ORPHA:85327
Lysosomal Acid Lipase Deficiency
Xanthelasma, Hyponatremia, Hypercholesterolemia, Hypertriglyceridemia, Steatorrhea, Hyperkalemia,... ORPHA:275761
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Hematochezia, Duodenal polyposis, Multiple gastric polyps, Small intestinal polyposis, Adenomatou... ORPHA:329971
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Microcolon, Hypopigmented skin patches, Premature graying of hair, Hypogonadism, Abnormal eyebrow... ORPHA:163746
Syndromic Diarrhea
Trichorrhexis nodosa, Villous atrophy, Colitis, Hepatoblastoma, Gastritis, Hypoplasia of the thym... ORPHA:84064
Jacobsen Syndrome
Annular pancreas, Intestinal malrotation, Cryptorchidism, Ectopic anus, Attention deficit hyperac... ORPHA:2308
Focal Dermal Hypoplasia
Alopecia, Gastroesophageal reflux, Coarse metaphyseal trabecularization, Duodenal atresia, Abnorm... ORPHA:2092
Congenital Disorder Of Glycosylation, Type Iiaa
Hypercholesterolemia, Hyperammonemia OMIM:620454
Juvenile Polyposis Of Infancy
Hypoalbuminemia, High, narrow palate, Gastrointestinal hemorrhage, Intestinal bleeding, Protein-l... ORPHA:79076
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Self-injurious behavior, Microphallus, Cryptorchidism, Motor stereotypy, Craniosynostosis, Hyposp... ORPHA:468631
Plasminogen Deficiency, Type I
Decreased level of plasminogen, Duodenal ulcer OMIM:217090
Ermine Phenotype
Iris hypopigmentation, Irregular hyperpigmentation, Hypopigmented skin patches, Ocular albinism, ... ORPHA:999
Stromme Syndrome
Intestinal malrotation, Duodenal atresia, Cleft palate, Jejunal atresia OMIM:243605
Lowe Oculocerebrorenal Syndrome
Elevated amniotic fluid alpha-fetoprotein, Rickets, Osteomalacia, Cryptorchidism, Elevated circul... OMIM:309000
Oculocutaneous Albinism Type 1A
Iris hypopigmentation, Hypopigmentation of the skin, Ocular albinism, Freckling, Albinism, Hypopi... ORPHA:79431
Mungan Syndrome
Barrett esophagus, Megaduodenum, Hypoperistalsis, Intestinal pseudo-obstruction OMIM:611376
Prader-Willi Syndrome Due To Translocation
Iris hypopigmentation, Bifid uvula, Abnormal temper tantrums, Stellate iris, Head-banging, Hypopi... ORPHA:177907
Hypohidrotic Ectodermal Dysplasia
Generalized hypopigmentation of hair, Irregular hyperpigmentation, Xerostomia, Breast aplasia, Tr... ORPHA:238468
Hoyeraal-Hreidarsson Syndrome
Generalized hypopigmentation of hair, Oral leukoplakia, Premature graying of hair, Generalized hy... ORPHA:3322
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Loose anagen hair, Multiple lentigines, Long eyelashes, Cryptorchidism, Attention deficit hyperac... OMIM:607721
Albinism, Oculocutaneous, Type Ia
White hair, Ocular albinism, Absent skin pigmentation, Blue irides, Albinism, Hypopigmentation of... OMIM:203100
Coffin-Siris Syndrome 1
Facial hypertrichosis, Dry hair, Clitoral hypertrophy, Hypoplastic fifth fingernail, Cryptorchidi... OMIM:135900
Congenital Tracheal Stenosis
Meckel diverticulum, Duodenal stenosis, Abnormal stomach morphology, Abnormal gastrointestinal tr... ORPHA:141127
Gardner Syndrome
Gastrointestinal carcinoma, Adenomatous colonic polyposis, Prostate cancer, Ampulla of Vater carc... ORPHA:79665
Miller-Dieker Lissencephaly Syndrome
Cryptorchidism, Duodenal atresia, Cleft palate OMIM:247200
Feingold Syndrome Type 1
Jejunal atresia, Esophageal atresia, Gastrointestinal atresia, Anal atresia, Duodenal atresia ORPHA:391641
Visceral Myopathy 1
Microcolon, Intestinal pseudo-obstruction, Megaduodenum, Thinning of outer muscular layer of smal... OMIM:155310
Degcags Syndrome
Oral-pharyngeal dysphagia, Premature graying of hair, Hyperbilirubinemia, Protruding tongue, Cryp... OMIM:619488
Immunodeficiency 82 With Systemic Inflammation
Hypoalbuminemia, Anoperineal fistula, Osteomalacia, Villous atrophy, Crohn's disease, Gastritis, ... OMIM:619381
Lipodystrophy, Familial Partial, Type 7
Pigmentary retinopathy, Hypercholesterolemia, Hypertriglyceridemia, Sparse hair, Dysphagia, Spars... OMIM:606721
Primary Intestinal Lymphangiectasia
Hypoalbuminemia, Increased stool alpha1-antitrypsin concentration, Hypomagnesemia, Intestinal lym... ORPHA:90362
Feingold Syndrome 1
Annular pancreas, Jejunal atresia, Tracheoesophageal fistula, Esophageal atresia, Gastrointestina... OMIM:164280
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Congenital shortened small intestine, Meckel diverticulum, Annular pancreas, Intestinal malrotati... OMIM:265380
Cog8-Cdg
Protein-losing enteropathy ORPHA:95428
Hermansky-Pudlak Syndrome
Iris hypopigmentation, Gastrointestinal hemorrhage, Hypopigmentation of the skin, Ocular albinism... ORPHA:79430
Brittle Cornea Syndrome
Osteoporosis, Cleft palate, Abnormality of hair pigmentation ORPHA:90354
Immunodeficiency 47
Decreased circulating copper concentration, Hypercholesterolemia OMIM:300972
Juvenile Polyposis Syndrome
Rectocele, Gastrointestinal hemorrhage, Protein-losing enteropathy, Hematochezia, Colon cancer, S... ORPHA:2929
Apc-Related Attenuated Familial Adenomatous Polyposis
Gastrointestinal carcinoma, Duodenal adenocarcinoma, Duodenal polyposis, Pilomatrixoma, Multiple ... ORPHA:247806
Smith-Lemli-Opitz Syndrome
Self-injurious behavior, Clitoral hypertrophy, Gastroesophageal reflux, Microglossia, Elevated ci... ORPHA:818
Metachromatic Leukodystrophy
Addictive behavior, Abnormal stomach morphology, Abnormal duodenum morphology, Abnormal gallbladd... ORPHA:512
Microvillus Inclusion Disease
Villous atrophy, Abnormal small intestinal villus morphology ORPHA:2290
Vici Syndrome
Hypopigmentation of the skin, Ocular albinism, Median cleft palate, Penile hypospadias, Elevated ... OMIM:242840
Alagille Syndrome 1
Hepatocellular carcinoma, Pigmentary retinopathy, Hypercholesterolemia, Hypertriglyceridemia OMIM:118450
Charge Syndrome
Anal stenosis, Parathyroid hypoplasia, Hypoplastic male external genitalia, Decreased response to... OMIM:214800
Brittle Cornea Syndrome 1
Red hair OMIM:229200
Cystinosis, Nephropathic
Pigmentary retinopathy, Decreased circulating carnitine concentration, Polydipsia, Hypopigmentati... OMIM:219800
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion
Intestinal bleeding, Adenomatous colonic polyposis, Duodenal polyposis, Low posterior hairline, H... ORPHA:261584
Tarp Syndrome
Thick eyebrow, Cryptorchidism, Abnormal hair pattern, Abnormal duodenum morphology, Glossoptosis,... ORPHA:2886
Cat Eye Syndrome
Anal stenosis, Meckel diverticulum, Volvulus, Intestinal malrotation, Rectal fistula, Rectal atre... OMIM:115470
Immunodeficiency 31C
Protein-losing enteropathy, Osteopenia, Villous atrophy, Gastrointestinal eosinophilia, Intussusc... OMIM:614162
Autosomal Recessive Faciodigitogenital Syndrome
Dry hair, Coarse hair, Shawl scrotum, High palate, Widow's peak, Hypopigmentation of hair ORPHA:1974
Fanconi Anemia
Hypopigmented skin patches, Aplasia/Hypoplasia of the uvula, Cryptorchidism, High palate, Anal at... ORPHA:84
Pericardial And Diaphragmatic Defect
Intestinal malrotation, Meckel diverticulum, Abnormal gastrointestinal tract morphology ORPHA:2847
Fraser Syndrome 1
Clitoral hypertrophy, Small nail, Extension of hair growth on temples to lateral eyebrow, Abnorma... OMIM:219000
Scedosporiosis
Abnormal jejunum morphology ORPHA:449280
Whim Syndrome
Cervix cancer, Vitiligo, Abnormal small intestine morphology, Parotitis ORPHA:51636
Holoprosencephaly 13, X-Linked
Gastroesophageal reflux, Median cleft palate, Submucous cleft hard palate, Duodenal atresia, Clef... OMIM:301043
Menke-Hennekam Syndrome 2
Duodenal ulcer OMIM:618333
Familial Adenomatous Polyposis 1
Duodenal adenocarcinoma, Duodenal polyposis, Multiple gastric polyps, Hepatoblastoma, Hyperpigmen... OMIM:175100
Townes-Brocks Syndrome 1
Anal stenosis, Gastroesophageal reflux, Bifid scrotum, Cryptorchidism, Tracheoesophageal fistula,... OMIM:107480
Chediak-Higashi Syndrome
Silver-gray hair, Iris hypopigmentation, Hypopigmentation of the skin, Ocular albinism, Giant mel... OMIM:214500
Chédiak-Higashi Syndrome
Iris hypopigmentation, Hypopigmentation of the skin, Spotty hyperpigmentation, Increased circulat... ORPHA:167
Dextrocardia
Intestinal malrotation, Abnormal reproductive system morphology, Meckel diverticulum, Pancreatic ... ORPHA:1666
Histidinemia
Hyperactivity, Hyperhistidinemia ORPHA:2157
Oculocerebral Hypopigmentation Syndrome, Cross Type
Iris hypopigmentation, Hypopigmentation of hair, Cryptorchidism, Ocular albinism ORPHA:2719
Heterotaxy, Visceral, 1, X-Linked
Posteriorly placed anus, Anal atresia, Duodenal atresia, Hypoplastic toenails OMIM:306955
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hypoalbuminemia, Osteopenia, Gastroesophageal reflux, Increased circulating ferritin concentratio... OMIM:619534
Familial Adenomatous Polyposis
Pituitary adenoma, Goiter, Pancreatic adenocarcinoma, Adenomatous colonic polyposis, Stomach canc... ORPHA:733
Acrocephalopolydactylous Dysplasia
Craniosynostosis, Hypoplastic colon, Hypoplasia of the small intestine, Pancreatic fibrosis OMIM:200995
Autosomal Recessive Polycystic Kidney Disease
Protein-losing enteropathy, Gastrointestinal hemorrhage, Polydipsia, Increased serum bile acid co... ORPHA:731
Iniencephaly
Anal atresia, Duodenal atresia ORPHA:63259
Menkes Disease
Sparse hair, Gastrointestinal hemorrhage, Osteoporosis, Hypopigmentation of hair, Woolly hair ORPHA:565
Heterotaxy, Visceral, 5, Autosomal
Intestinal malrotation, Duodenal atresia OMIM:270100
Liver Disease, Severe Congenital
Protein-losing enteropathy, Hypospadias, Dry hair, Pancreatic hypoplasia, Increased circulating f... OMIM:619991
Duane Retraction Syndrome
Irregular hyperpigmentation, Hypopigmented skin patches, Central heterochromia, Patchy hypopigmen... ORPHA:233
Genitopatellar Syndrome
Small scrotum, Malrotation of small bowel, Anal stenosis, Clitoral hypertrophy, Anteriorly placed... OMIM:606170
Mosaic Trisomy 16
Meckel diverticulum, Anteriorly placed anus, Abnormality of the gastrointestinal tract, Profuse p... ORPHA:1708
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Intestinal malrotation, Cryptorchidism, Hiatus hernia, Abnormal duodenum morphology, High palate,... OMIM:601776
Homozygous Familial Hypercholesterolemia
Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia 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
Ak4em1(IMPC)Kmpc Exon Deletion Mice
Ak4tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Ak4tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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