Gene Summary

SH3 and multiple ankyrin repeat domains 1

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal ovary morphology Shank1em1(IMPC)Mbp HOM Late adult 0.00
enlarged gallbladder Shank1em1(IMPC)Mbp HOM Late adult 0.00
small liver Shank1em1(IMPC)Mbp HOM Early adult 0.00
abnormal gallbladder morphology Shank1em1(IMPC)Mbp HOM Late adult 0.00
abnormal coat/ hair morphology Shank1em1(IMPC)Mbp HOM Middle aged adult 2.17×10-05
abnormal liver morphology Shank1em1(IMPC)Mbp HOM Early adult 0.00
decreased startle reflex Shank1em1(IMPC)Mbp HOM Early adult 2.29×10-06
enlarged ovary Shank1em1(IMPC)Mbp HOM Late adult 0.00
abnormal skin morphology Shank1em1(IMPC)Mbp HOM Late adult 0.00
cataract Shank1em1(IMPC)Mbp HOM   Early adult 7.86×10-05

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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.


XRay Images Whole Body Lateral Orientation

10 Images


XRay Images Whole Body Dorso Ventral

30 Images


XRay Images Whole Body Lateral Orientation

7 Images


XRay Images Whole Body Dorso Ventral

21 Images

Human diseases caused by Shank1 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 Shank1 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Cataract 20, Multiple Types
Cataract, Membranous cataract OMIM:116100
Familial Alzheimer-Like Prion Disease
Deficit in phonologic short-term memory, Cognitive impairment, Emotional lability, Anxiety, Atten... ORPHA:280397
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly, Cataract ORPHA:79281
Gallbladder Disease 4
Cholelithiasis OMIM:611465
Hepatic Adenomas, Familial
Polycystic ovaries, Hepatocellular adenoma OMIM:142330
46,Xx Testicular Disorder Of Sex Development
Polycystic ovaries, Decreased testicular size, Ambiguous genitalia, Male hypogonadism ORPHA:393
Galactosemia Iv
Prolonged neonatal jaundice, Cataract OMIM:618881
Decreased liver function, Cholelithiasis, Cholestasis OMIM:614156
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Cataract 18
Cataract OMIM:610019
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Dementia, Inertia, Inappropriate behavior, Abnormal neuron morphology, Shuffling gait, Bradykines... ORPHA:412066
Protoporphyria, Erythropoietic, X-Linked
Elevated hepatic transaminase, Cholelithiasis OMIM:300752
Gallbladder Disease 1
Cholangitis, Hepatic fibrosis, Cholelithiasis, Pancreatitis, Cholesterol gallstones, Cholecystiti... OMIM:600803
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries OMIM:184700
Gcgr-Related Hyperglucagonemia
Neoplasm of the pancreas, Cholelithiasis, Abnormal biliary tract morphology ORPHA:438274
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Anemia, Congenital Dyserythropoietic, Type Ii
Jaundice, Cholelithiasis, Splenomegaly OMIM:224100
Biliary Atresia, Extrahepatic
Hepatomegaly, Portal fibrosis, Acholic stools, Atretic gallbladder, Bile duct proliferation, Cirr... OMIM:210500
Galactosemia Ii
Prolonged neonatal jaundice, Cataract OMIM:230200
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Elevated circulating growth hormone concentration, Polycystic ovaries, Enlarged polycystic ovarie... ORPHA:90301
Aniridia 3
Cataract OMIM:617142
Cholestasis, Benign Recurrent Intrahepatic, 2
Intrahepatic cholestasis, Hepatomegaly, Cholelithiasis, Jaundice OMIM:605479
Corneal Dystrophy, Groenouw Type I
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy OMIM:121900
Benign Recurrent Intrahepatic Cholestasis
Acholic stools, Hepatocellular carcinoma, Pancreatitis, Cholelithiasis, Cholestatic liver disease... ORPHA:65682
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Dystonia, Inappropriate behavior, Chorea, Cognitive impairment, Ataxia, Anxiety, Depression, Memo... ORPHA:401901
Spastic Paraparesis And Deafness
Tremor, Cataract OMIM:312910
Huntington Disease-Like 1
Dementia, Dysmetria, Chorea, Aggressive behavior, Basal ganglia gliosis, Unsteady gait, Anxiety, ... OMIM:603218
46,Xy Complete Gonadal Dysgenesis
Testicular dysgenesis, Hypogonadotropic hypogonadism, Polycystic ovaries, Male pseudohermaphroditism ORPHA:242
Premature Ovarian Failure 2A
Premature ovarian insufficiency OMIM:300511
Epilepsy, Progressive Myoclonic, 12
Dysmetria, Ataxia, Mental deterioration, Anxiety, Attention deficit hyperactivity disorder, Depre... OMIM:619191
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Giant cell hepatitis, Cholelithiasis, Jaundice OMIM:214980
Cataract 12, Multiple Types
Developmental cataract, Progressive cataract OMIM:611597
Low Phospholipid-Associated Cholelithiasis
Cholangitis, Hepatocellular carcinoma, Sclerosing cholangitis, Biliary tract obstruction, Choleli... ORPHA:69663
Congenital Disorder Of Glycosylation, Type Ii
Hepatomegaly, Cataract OMIM:607906
Basal Ganglia Calcification, Idiopathic, 5
Athetosis, Dementia, Chorea, Cognitive impairment, Apathy, Basal ganglia calcification, Anxiety, ... OMIM:615483
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Jaundice, Hypersplenism, Cholelithiasis, Splenomegaly ORPHA:846
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Pigment gallstones, Cholelithiasis, Splenomegaly, Cholecystitis, Jaundice OMIM:613470
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Huntington Disease-Like 2
Dystonia, Dementia, Chorea, Apathy, Bradykinesia, Irritability, Anxiety, Depression OMIM:606438
Autosomal Erythropoietic Protoporphyria
Cirrhosis, Decreased liver function, Cholelithiasis ORPHA:79278
Erythrocytosis, Familial, 8
Jaundice, Cholelithiasis, Cholecystitis, Splenomegaly OMIM:222800
Spinocerebellar Ataxia 12
Dementia, Axial dystonia, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Anxiety, ... OMIM:604326
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Hepatic failure OMIM:177000
Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal dysgenesis with female appearance, male... ORPHA:206484
Cataract OMIM:190330
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract OMIM:274205
Optic Atrophy 3, Autosomal Dominant
Tremor, Cataract OMIM:165300
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract OMIM:300719
Nathalie Syndrome
Cataract ORPHA:2663
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Jaundice, Cholelithiasis, Cholecystitis, Splenomegaly OMIM:235700
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Premature ovarian insufficiency ORPHA:75325
Cataract-Microcornea Syndrome
Corneal dystrophy, Iris coloboma, Corneal opacity, Cataract, Microcornea ORPHA:1377
Peroxisome Biogenesis Disorder 10A (Zellweger)
Hepatomegaly, Cataract OMIM:614882
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Pyruvate Kinase Deficiency Of Red Cells
Jaundice, Cholelithiasis, Cholecystitis, Splenomegaly OMIM:266200
Spherocytosis, Type 1
Jaundice, Cholelithiasis, Splenomegaly OMIM:182900
Early-Onset Schizophrenia
Shyness, Unhappy demeanor, Anxiety, Low self esteem, Suicidal ideation, Cognitive impairment, Dec... ORPHA:96369
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Hypogonadism, Abnormality of the ovary, Decreased testicular size ORPHA:1875
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jau... OMIM:211600
Peroxisome Biogenesis Disorder 8A (Zellweger)
Jaundice, Hepatomegaly, Cataract, Elevated circulating aspartate aminotransferase concentration OMIM:614876
Pancreatic Colipase Deficiency
Exocrine pancreatic insufficiency, Cholelithiasis ORPHA:309108
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Developmental cataract, Cataract OMIM:613076
Pupillary Membrane, Persistence Of
Developmental cataract, Persistent pupillary membrane, Megalocornea OMIM:178900
Premature Ovarian Failure 16
Reduced antral follicle count, Elevated circulating follicle stimulating hormone level, Premature... OMIM:618723
Functioning Gonadotropic Adenoma
Abnormal prolactin level, Oligospermia, Macroorchidism, postpubertal, Adrenocorticotropic hormone... ORPHA:91348
Galactose Mutarotase Deficiency
Decreased liver function, Hepatomegaly, Cataract, Cholestasis ORPHA:570422
Dubin-Johnson Syndrome
Biliary tract abnormality, Jaundice OMIM:237500
Premature Ovarian Failure 1
Premature ovarian insufficiency, Increased circulating gonadotropin level OMIM:311360
Hepatomegaly, Hypogonadotropic hypogonadism, Hepatitis, Cholelithiasis, Splenomegaly ORPHA:848
46,Xx Ovotesticular Disorder Of Sex Development
Hypospadias, True hermaphroditism, Bifid scrotum, Abnormal morphology of female internal genitali... ORPHA:2138
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Polycystic ovaries, Precocious puberty, Hypergonadotropic hypogonadism ORPHA:2229
Premature Ovarian Failure 5
Reduced antral follicle count, Hypoplasia of the ovary, Streak ovary, Premature ovarian insuffici... OMIM:611548
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Polycystic ovaries, Pancreatitis, Hepatic steatosis ORPHA:79084
Familial Hyperprolactinemia
Female hypogonadism, Hemorrhagic ovarian cyst ORPHA:397685
Huntington Disease
Gait imbalance, Apathy, Irritability, Cerebral atrophy, Anxiety, Gait disturbance, Caudate atroph... ORPHA:399
Nephronophthisis 19
Hepatomegaly, Hepatic fibrosis, Bile duct proliferation, Splenomegaly, Cholestasis OMIM:616217
Peutz-Jeghers Syndrome
Abnormality of the gallbladder, Cervix cancer, Biliary tract neoplasm, Pancreatic adenocarcinoma,... ORPHA:2869
Parkinson Disease 6, Autosomal Recessive Early-Onset
Dystonia, Dementia, Bradykinesia, Anxiety, Depression OMIM:605909
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Portal fibrosis, Bile duct proliferation, Splenomegaly, Cirrhosis, Elevated hepatic... OMIM:602347
Caroli Disease
Cholangitis, Hepatomegaly, Cholangiocarcinoma, Hepatic fibrosis, Ascites, Cholelithiasis, Splenom... ORPHA:53035
Premature Ovarian Failure 9
Premature ovarian insufficiency, Increased circulating gonadotropin level OMIM:615724
Ovarian Hyperstimulation Syndrome
Hemorrhagic ovarian cyst, Ascites, Increased circulating gonadotropin level, Enlarged polycystic ... ORPHA:64739
Premature Ovarian Failure 19
Premature ovarian insufficiency OMIM:619245
Childhood Disintegrative Disorder
Dementia, Anxiety, Social and occupational deterioration, Mental deterioration, Motor deteriorati... ORPHA:168782
Glycogen Storage Disease Xii
Jaundice, Cholelithiasis, Cholecystitis, Splenomegaly OMIM:611881
Glycogen Storage Disease Vii
Cholelithiasis, Jaundice OMIM:232800
Galactose Epimerase Deficiency
Jaundice, Hepatomegaly, Cataract, Splenomegaly ORPHA:79238
Ovarian Fibroma
Abnormality of the ovary, Ascites, Peritonitis, Ovarian fibroma, Gonadal calcification, Mesenteri... ORPHA:314473
Thanatophoric Dysplasia, Glasgow Variant
Hepatosplenomegaly, Cataract OMIM:273680
Premature Ovarian Failure 3
Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:608996
Microphthalmia, Isolated, With Cataract 1
Cataract OMIM:156850
Cataract 9, Multiple Types
Developmental cataract, Progressive cataract, Iris coloboma, Cataract, Microcornea OMIM:604219
Spinocerebellar Ataxia 48
Dystonia, Dysmetria, Chorea, Ataxia, Irritability, Mental deterioration, Anxiety, Gait ataxia, De... OMIM:618093
Premature Ovarian Failure 8
Ovarian neoplasm, Premature ovarian insufficiency, Increased circulating gonadotropin level OMIM:615723
Ovarian Dysgenesis 2
Abnormality of the uterus, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Gonad... OMIM:300510
Rudiger Syndrome
Bicornuate uterus, Micropenis, Ovarian cyst OMIM:268650
Martinez-Frias Syndrome
Hypospadias, Pancreatic hypoplasia, Annular pancreas, Extrahepatic biliary duct atresia, Hypoplas... OMIM:601346
Parenteral Nutrition-Associated Cholestasis
Hepatomegaly, Hepatic fibrosis, Cholelithiasis, Splenomegaly, Biliary hyperplasia, Cirrhosis, Hep... ORPHA:567983
Genetic Hyperferritinemia Without Iron Overload
Cataract ORPHA:254704
Mirizzi Syndrome
Gallbladder perforation, Cholelithiasis, Pancreatitis, Cholesterol gallstones, Abnormality of the... ORPHA:521219
Progressive Supranuclear Palsy
Dystonia, Dementia, Cognitive impairment, Falls, Bradykinesia, Abnormal synaptic transmission, De... ORPHA:683
Myotonic Dystrophy 1
Testicular atrophy, Cholelithiasis, Hypogonadism OMIM:160900
Decreased corneal thickness, Corneal arcus, Lens subluxation, Iris transillumination defect, Irid... OMIM:309300
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Hepatitis, Cholelithiasis, Splenomegaly, Jaundice OMIM:194380
Insulin-Resistance Syndrome Type B
Abnormal salivary gland morphology, Enlarged ovaries, Polycystic ovaries, Biliary cirrhosis, Enla... ORPHA:2298
Premature Ovarian Failure 2B
Premature ovarian insufficiency OMIM:300604
Mitchell-Riley Syndrome
Pancreatic hypoplasia, Acholic stools, Annular pancreas, Absent gallbladder, Biliary atresia, Cho... OMIM:615710
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma
Cirrhosis, Cataract, Hepatic fibrosis, Cholestasis OMIM:609313
Cataract 1, Multiple Types
Nuclear cataract, Developmental cataract, Posterior subcapsular cataract, Microcornea, Pulverulen... OMIM:116200
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Autosomal Recessive Spastic Paraplegia Type 69
Hand tremor, Cataract ORPHA:401830
Aromatase Deficiency
Female pseudohermaphroditism, Ovarian cyst, Hypergonadotropic hypogonadism OMIM:613546
Estrogen Resistance Syndrome
Hypoplasia of the uterus, Breast hypoplasia, Enlarged polycystic ovaries, Increased circulating g... ORPHA:785
Congenital Bile Acid Synthesis Defect Type 4
Giant cell hepatitis, Cholelithiasis, Cholestatic liver disease, Hypogonadism, Elevated hepatic t... ORPHA:79095
Abnormal fear/anxiety-related behavior, Agoraphobia, Chorea, Claustrophobia, Irritability, Emotio... ORPHA:66624
Isolated Biliary Atresia
Hepatomegaly, Acholic stools, Elevated hepatic transaminase, Atretic gallbladder, Bile duct proli... ORPHA:30391
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Acute hepatic steatosis, Hepatitis, Macrovesicular hepatic steatosis, Cholesterol gallstones, Hep... ORPHA:209902
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Anterior Segment Dysgenesis 8
Persistent pupillary membrane, Hypoplasia of the iris, Ectopia lentis, Microphakia, Iris transill... OMIM:617319
Xp22.3 Microdeletion Syndrome
Hypogonadotropic hypogonadism, Polycystic ovaries ORPHA:1643
Fragile X Tremor/Ataxia Syndrome
Dementia, Dysmetria, Bradykinesia, Impaired tandem gait, Dysdiadochokinesis, Impaired distal vibr... OMIM:300623
Beta-Thalassemia Intermedia
Hepatomegaly, Hypoparathyroidism, Elevated hepatic iron concentration, Hepatocellular carcinoma, ... ORPHA:231222
Congenital Bile Acid Synthesis Defect Type 1
Hepatomegaly, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Elevated hepatic trans... ORPHA:79301
Ring Chromosome Y Syndrome
Hypospadias, Unilateral cryptorchidism, Bifid scrotum, Streak ovary, Abnormality of the male geni... ORPHA:261529
Burkitt Lymphoma
Abnormality of the liver, Abnormality of the ovary, Abnormality of the spleen, Abnormality of the... ORPHA:543
Gm2 Gangliosidosis, Ab Variant
Dystonia, Abnormal fear/anxiety-related behavior, Punctate periventricular T2 hyperintense foci, ... ORPHA:309246
Tetragametic Chimerism
Gonadal dysgenesis with female appearance, male, Abnormality of the ovary, True hermaphroditism, ... ORPHA:199310
Fraser-Like Syndrome
Ovarian cyst OMIM:229230
Cataract 15, Multiple Types
Nuclear cataract, Developmental cataract, Lamellar cataract, Cortical cataract, Cataract OMIM:615274
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypospadias, Elevated circulating follicle stimulating hormone level, Hypergonadotropic hypogonad... ORPHA:90796
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Chronic active hepatitis, Hypoparathyroidism, Asplenia, Cholelithiasis, Male hypogonadism, Premat... OMIM:240300
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Aniridia, Microcornea, Cataract OMIM:106230
Rabson-Mendenhall Syndrome
Long penis, Enlarged ovaries, Precocious puberty, Clitoral hypertrophy, Increased pineal volume ORPHA:769
Plin1-Related Familial Partial Lipodystrophy
Hepatic steatosis, Polycystic ovaries, Hepatic fibrosis ORPHA:280356
Congenital Bile Acid Synthesis Defect Type 3
Bile duct proliferation, Cirrhosis, Elevated circulating aspartate aminotransferase concentration... ORPHA:79302
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Aromatase Deficiency
Macroorchidism, postpubertal, Ambiguous genitalia, female, Hepatic steatosis, Hypergonadotropic h... ORPHA:91
Exfoliation Syndrome
Mydriasis, Abnormality of the lens, Lens subluxation, Iris hypoperfusion, Phakodonesis, Pseudoexf... OMIM:177650
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Splenomegaly, Cirrhosis, Cholestasis, Elevated hepatic transaminase, Biliary cirrho... OMIM:617394
Premature Ovarian Failure 7
Elevated circulating follicle stimulating hormone level, Clitoral hypertrophy, Premature ovarian ... OMIM:612964
Hypergonadotropic Hypogonadism And Partial Alopecia
Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Cataract 47
Microcornea, Cataract OMIM:612018
Sickle Cell Anemia
Hepatomegaly, Cardiomegaly, Cholelithiasis, Splenomegaly, Jaundice OMIM:603903
Young-Onset Parkinson Disease
Dystonia, Male sexual dysfunction, Dementia, Gait imbalance, Panic attack, Cognitive impairment, ... ORPHA:2828
Xeroderma Pigmentosum, Complementation Group G
Tremor, Cataract OMIM:278780
Peroxisome Biogenesis Disorder 12A (Zellweger)
Elevated hepatic transaminase, Cholelithiasis, Hepatic failure, Abnormality of the male genitalia OMIM:614886
Early-Onset Autosomal Dominant Alzheimer Disease
Dementia, Semantic dementia, Memory impairment, Ataxia, Disinhibition, Abnormal social behavior, ... ORPHA:1020
Ovarian Fibrothecoma
Abnormality of the endometrium, Abnormality of the ovary, Ascites, Peritonitis, Ovarian fibroma, ... ORPHA:314478
Elevated hepatic transaminase, Hepatomegaly, Hepatosplenomegaly, Cholelithiasis ORPHA:3166
Lipodystrophy, Partial, Acquired, Susceptibility To
Polycystic ovaries OMIM:608709
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Hypoplasia of the ovary, Premature ovarian insufficiency OMIM:609993
Premature Ovarian Failure 10
Elevated circulating follicle stimulating hormone level, Azoospermia, Hypoplasia of the ovary, Pr... OMIM:612885
Opitz Gbbb Syndrome
Hypospadias, Bifid scrotum, Enlarged ovaries, Bicornuate uterus, Cryptorchidism, Shawl scrotum ORPHA:2745
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Perrault Syndrome 6
Hypoplasia of the uterus, Streak ovary, Premature ovarian insufficiency OMIM:617565
Hepatomegaly, Ascites, Neoplasm of the pancreas, Cholelithiasis, Increased circulating gonadotrop... ORPHA:97278
Nphp3-Related Meckel-Like Syndrome
Abnormal liver parenchyma morphology, Abnormal biliary tract morphology, Abnormality of the pancreas ORPHA:3032
Triosephosphate Isomerase Deficiency
Jaundice, Cholelithiasis, Cholecystitis, Splenomegaly OMIM:615512
Hepatomegaly, Long penis, Enlarged ovaries, Labial hypertrophy, Clitoral hypertrophy, Overgrowth ... ORPHA:508
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Hepatic fibrosis, Bile duct proliferation, Cirrhosis, Elevated circulating aspartat... OMIM:619662
Primary Sclerosing Cholangitis
Hepatomegaly, Neoplasm of the gallbladder, Cholangiocarcinoma, Hepatic fibrosis, Hepatocellular c... ORPHA:171
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Testicular microlithiasis, Abnormality of the Leydig cells, Hypogonadotropic hypogonadism, Microp... OMIM:228300
Retinal Dystrophy With Or Without Extraocular Anomalies
Goiter, Premature ovarian insufficiency OMIM:617175
Leber Congenital Amaurosis 1
Hepatomegaly, Keratoconus, Cataract OMIM:204000
Cataract 10, Multiple Types
Posterior Y-sutural cataract, Developmental cataract, Zonular cataract OMIM:600881
Nathalie Syndrome
Cataract OMIM:255990
Disorder Of Bile Acid Synthesis
Elevated hepatic transaminase, Biliary tract abnormality, Cholestasis, Abnormality of the liver ORPHA:79168
Premature Ovarian Failure 18
Elevated circulating follicle stimulating hormone level, Hypoplasia of the ovary, Premature ovari... OMIM:619203
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Alpha-Heavy Chain Disease
Hepatomegaly, Premature ovarian insufficiency, Ascites, Splenomegaly ORPHA:100025
Hypodontia-Dysplasia Of Nails Syndrome
Polycystic ovaries ORPHA:2228
Premature Ovarian Failure 6
Streak ovary, Elevated circulating follicle stimulating hormone level, Premature ovarian insuffic... OMIM:612310
Elevated hepatic transaminase, Abnormality of the hepatic vasculature, Polycystic ovaries ORPHA:275555
Glycogen Storage Disease Ixc
Hepatomegaly, Increased hepatic glycogen content, Bile duct proliferation, Splenomegaly, Cirrhosi... OMIM:613027
Hereditary Elliptocytosis
Prolonged neonatal jaundice, Jaundice, Cholelithiasis, Splenomegaly ORPHA:288
Diethylstilbestrol Syndrome
Testicular dysgenesis, Hypospadias, Abnormal reproductive system morphology, Abnormality of the u... ORPHA:1916
Cataract 41
Nuclear cataract, Developmental cataract OMIM:116400
Cimdag Syndrome
Hypogonadism, Microvesicular hepatic steatosis, Hepatomegaly, Cholelithiasis OMIM:619273
Cataract 11, Multiple Types
Cataract OMIM:610623
Ketamine-Induced Biliary Dilatation
Abnormal biliary tract morphology ORPHA:293807
Distal Trisomy 5Q
Hypospadias, Aplasia/Hypoplasia of the gallbladder, Cryptorchidism ORPHA:96097
Coats Disease
Cataract, Aplasia/Hypoplasia of the iris, Abnormal anterior chamber morphology ORPHA:190
Premature Ovarian Failure 17
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:619146
Ovarian Dysgenesis 9
Elevated circulating follicle stimulating hormone level, Hypoplasia of the ovary, Premature ovari... OMIM:619665
Sickle Cell Anemia
Abnormality of the spleen, Pigment gallstones, Cholestasis ORPHA:232
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Cryptorchidism, Micropenis, Decreased testicular size, Cholelithiasis OMIM:300534
Hemochromatosis, Type 4
Cirrhosis, Hepatomegaly, Cataract, Hepatic steatosis OMIM:606069
Cataract 3, Multiple Types
Sutural cataract, Developmental cataract, Cerulean cataract, Nuclear pulverulent cataract OMIM:601547
Hepatomegaly, Pheochromocytoma, Ascites, Neoplasm of the pancreas, Cholelithiasis, Increased circ... ORPHA:97261
Cystic Echinococcosis
Hepatomegaly, Splenic cyst, Peritoneal abscess, Biliary tract obstruction, Hepatic cysts, Abnorma... ORPHA:400
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Persistent pupillary membrane, Corneal opacity, Cataract, Aplasia/Hypoplasia of the iris ORPHA:1067
Hereditary Spherocytosis
Jaundice, Hepatomegaly, Cholelithiasis, Splenomegaly ORPHA:822
Peroxisome Biogenesis Disorder 7A (Zellweger)
Hepatomegaly, Cataract, Jaundice OMIM:614872
Meckel Syndrome, Type 3
Bile duct proliferation, Hepatomegaly, Malformation of the hepatic ductal plate, Hepatic fibrosis OMIM:607361
Ectopia Lentis Et Pupillae
Persistent pupillary membrane, Cataract, Ectopia lentis OMIM:225200
Anterior Segment Dysgenesis 7
Buphthalmos, Sclerocornea, Cataract, Microcornea, Ocular anterior segment dysgenesis OMIM:269400
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly, Cataract OMIM:613730
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Cryptorchidism, Polycystic ovaries, Decreased testicular size, Hypergonadotropic hypogonadism ORPHA:3085
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the ovary, Abnormality of the urethra, Polycystic ovaries ORPHA:2795
Aniridia 2
Aniridia, Cataract OMIM:617141
Generalized Pseudohypoaldosteronism Type 1
Cholelithiasis ORPHA:171876
Peters Anomaly
Opacification of the corneal stroma, Thinning of Descemet membrane, Peters anomaly, Developmental... ORPHA:708
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Polycystic ovaries, Hepatic steatosis ORPHA:79085
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Hypospadias, Abnormal vagina morphology, Streak ovary, Gonadoblastoma, Abnormality of the uterus,... OMIM:194072
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Pancreatitis, Hepatic steatosis, Elevated circulating alanine aminotransferase conc... OMIM:618805
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Adrenal hyperplasia, Oligospermia, Hypospadias, Fused labia majora, Elevated circulating follicle... ORPHA:95699
Amoebic Keratitis
Corneal perforation, Decreased corneal sensation, Corneal stromal edema, Iris atrophy, Abnormal c... ORPHA:67043
Perrault Syndrome 2
Streak ovary OMIM:614926
Leber Congenital Amaurosis 6
Keratoconus, Cataract OMIM:613826
Cataract 5, Multiple Types
Nuclear cataract, Anterior polar cataract, Lamellar cataract, Zonular cataract, Pulverulent cataract OMIM:116800
Microgastria-Limb Reduction Defects Association
Asplenia, Splenogonadal fusion, Absent gallbladder, Bicornuate uterus, Cryptorchidism, Biliary tr... OMIM:156810
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Cataract ORPHA:369840
Proximal Myotonic Myopathy
Cataract ORPHA:606
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Ectopia lentis ORPHA:1068
Hyperekplexia 2
Astigmatism, Exaggerated startle response OMIM:614619
Senior-Loken Syndrome
Congenital hepatic fibrosis, Cataract ORPHA:3156
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Hepatomegaly, Cataract OMIM:615704
Autosomal Dominant Keratitis
Abnormality of the corneal limbus, Aniridia, Hypoplastic iris stroma, Limbal stem cell deficiency... ORPHA:2334
Cidec-Related Familial Partial Lipodystrophy
Hepatomegaly, Polycystic ovaries, Pancreatitis, Hepatic steatosis ORPHA:435651
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Cataract OMIM:619082
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Acholic stools, Biliary tract abnormality, Splenomegaly, Cirrhosis, Neonatal choles... ORPHA:1414
Metachromatic Leukodystrophy
Abnormal gallbladder morphology, Neoplasm of the gallbladder, Hemobilia ORPHA:512
46,Xy Sex Reversal 7
Gonadal dysgenesis, male, Sex reversal, Streak ovary, Gonadoblastoma, Hypoplasia of the fallopian... OMIM:233420
8P Inverted Duplication/Deletion Syndrome
Aplasia/Hypoplasia of the gallbladder, Micropenis, Precocious puberty, Cryptorchidism ORPHA:96092
Donohue Syndrome
Hepatic fibrosis, Long penis, Pancreatic islet-cell hyperplasia, Clitoral hypertrophy, Cholestasi... OMIM:246200
Dubin-Johnson Syndrome
Abnormality of the liver, Hepatomegaly, Biliary tract abnormality, Jaundice ORPHA:234
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Cholelithiasis OMIM:618775
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Intermittent jaundice, Splenomegaly ORPHA:3202
Stickler Syndrome Type 2
Corneal opacity, Cataract ORPHA:90654
Anterior Segment Dysgenesis 2
Anterior segment of eye aplasia, Sclerocornea, Congenital aphakia, Aniridia, Peters anomaly, Post... OMIM:610256
Joubert Syndrome 9
Astigmatism, Cataract, Hepatic fibrosis OMIM:612285
Distal Monosomy 10P
Cryptorchidism, Polycystic ovaries, Hypoplasia of penis ORPHA:1580
Meckel Syndrome, Type 6
Abnormal internal genitalia, Bile duct proliferation, Cystic liver disease, Hepatic fibrosis OMIM:612284
Retinitis Pigmentosa 84
Cataract OMIM:618220
Satoyoshi Syndrome
Abnormality of the uterus, Abnormality of the ovary, Hypoplasia of the ovary, Hypoplasia of the u... ORPHA:3130
Trichohepatoneurodevelopmental Syndrome
Hepatomegaly, Hypoplastic nipples, Cholelithiasis, Splenomegaly, Decreased liver function OMIM:618268
North American Indian Childhood Cirrhosis
Prolonged neonatal jaundice, Biliary cirrhosis, Portal hypertension OMIM:604901
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Lens subluxation OMIM:614292
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the ovary, Micropenis, Cryptorchidism, Decreased tes... OMIM:614841
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Hepatocellular carcinoma, Polycystic ovaries, He... ORPHA:370
Elevated hepatic transaminase, Abnormal testis morphology, Polycystic ovaries ORPHA:100
Congenital Generalized Lipodystrophy
Hepatomegaly, Precocious puberty in females, Polycystic ovaries, Cirrhosis, Hepatic steatosis, Cl... ORPHA:528
Lipodystrophy, Familial Partial, Type 3
Cirrhosis, Hepatic steatosis, Polycystic ovaries OMIM:604367
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Hepatic fibrosis, Asplenia, Pancreatic cysts, Bile duct proliferation, Hepatic cyst... OMIM:208540
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Ovarian cyst, Biliary tract abnormality, Uterine neoplasm, Precocious p... OMIM:175200
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Lipe-Related Familial Partial Lipodystrophy
Hepatic steatosis, Abnormal labia majora morphology, Polycystic ovaries, Hepatomegaly ORPHA:435660
Isolated Aniridia
Aniridia, Cataract, Peters anomaly ORPHA:250923
Anterior Segment Dysgenesis 1
Posterior polar cataract, Peters anomaly, Opacification of the corneal stroma, Microcornea, Ocula... OMIM:107250
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Elevated hepatic transaminase, Polycystic ovaries, Hypergonadotropic hypogonadism OMIM:268020
Hereditary Hemorrhagic Telangiectasia
Cholelithiasis, Cirrhosis, Hepatic failure, Cholecystitis, Portal hypertension ORPHA:774
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
Band keratopathy, Cataract OMIM:604278
Cowden Syndrome
Abnormal penis morphology, Goiter, Endometrial carcinoma, Adenoma sebaceum, Abnormality of the ut... ORPHA:201
Bangstad Syndrome
Abnormal testis morphology, Polycystic ovaries, Abnormality of the parathyroid gland ORPHA:1227
Pellagra-Like Syndrome
Cataract OMIM:260650
Cerebrotendinous Xanthomatosis
Cholelithiasis OMIM:213700
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Hypogonadotropic Hypogonadism 25 With Anosmia
Cryptorchidism, Micropenis, Hypoplasia of the ovary OMIM:618841
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hepatomegaly, Cholelithiasis, Hepatosplenomegaly, Cholecystitis, Precocious puberty OMIM:301066
Congenital Fibrinogen Deficiency
Splenic rupture, Hemorrhagic ovarian cyst, Right ventricular hypertrophy, Left ventricular hypert... ORPHA:335
Primary Lipodystrophy
Polycystic ovaries, Pancreatitis, Splenomegaly, Cirrhosis, Hepatic steatosis ORPHA:90970
Aniridia And Absent Patella
Aniridia, Cataract OMIM:106220
Pentalogy Of Cantrell
Hypospadias, Polysplenia, Absent gallbladder ORPHA:1335
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Jaundice, Hepatomegaly, Cataract, Splenomegaly OMIM:608885
Galactosemia I
Cirrhosis, Hepatomegaly, Decreased liver function, Cataract OMIM:230400
Müllerian Aplasia And Hyperandrogenism
Abnormality of the ovary, Abnormal vagina morphology, Hypoplasia of the uterus ORPHA:247768
Basel-Vanagaite-Smirin-Yosef Syndrome
Hypospadias, Male urethral meatus stenosis, Cholelithiasis ORPHA:464738
Congenital Factor Vii Deficiency
Ovarian cyst ORPHA:327
Partial Androgen Insensitivity Syndrome
Hypospadias, Aplasia of the uterus, Bifid scrotum, Fused labia majora, Azoospermia, Urogenital si... ORPHA:90797
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Polycystic ovaries, Pancreatitis, Splenomegaly, Hepatic steatosis ORPHA:2348
Cataract 43
Subcapsular cataract OMIM:616279
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Polycystic ovaries, Hepatocellular adenoma, Sple... ORPHA:264580
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Hypospadias, Aplasia of the uterus, Precocious puberty in females, Bifid scrotum, Elevated circul... ORPHA:90793
Peroxisome Biogenesis Disorder 10B
Prolonged neonatal jaundice, Cataract OMIM:617370
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Asplenia, Annular pancreas ORPHA:210122
Elevated hepatic transaminase, Ambiguous genitalia, male, Hepatosplenomegaly, Bilobate gallbladde... OMIM:607330
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Polycystic ovaries, Pancreatitis, Splenomegaly, Cirrhosis, Hepatic steatosis ORPHA:79083
Meckel Syndrome, Type 7
Pancreatic cysts, Right ventricular hypertrophy, Bile duct proliferation, Hepatosplenomegaly, Cho... OMIM:267010
Cochleosaccular Degeneration-Cataract Syndrome
Cataract ORPHA:3233
Cataract 30, Multiple Types
Posterior polar cataract, Pulverulent cataract, Diffuse nuclear cataract OMIM:116300
Xp22.13P22.2 Duplication Syndrome
Macroorchidism, Polycystic ovaries ORPHA:284180
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Abnormality of the intrahepatic bile duct, Interface hepatitis, Granulomatous cholangitis, Choles... ORPHA:562639
Genitopalatocardiac Syndrome
Hypospadias, Gonadal dysgenesis, male, Abnormality of the gallbladder, Abnormality of mesentery m... ORPHA:2075
Biliary Cirrhosis, Primary, 1
Biliary cirrhosis OMIM:109720
Porphyria, Congenital Erythropoietic
Cholelithiasis, Splenomegaly OMIM:263700
Meckel Syndrome, Type 5
Bile duct proliferation OMIM:611561
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Micropenis, Septate vagina, Uterus didelphys, Absent gallbladder OMIM:617925
Mccune-Albright Syndrome
Macroorchidism, Goiter, Hepatitis, Hepatocellular adenoma, Pancreatitis, Abnormal testis morpholo... ORPHA:562
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Hepatic fibrosis, Hepatocellular carcinoma, Polycystic ovaries, Hepatocellular aden... ORPHA:79240
Hypogonadism-Cataract Syndrome
Cataract OMIM:240950
Craniofacioskeletal Syndrome
Hypospadias, Cryptorchidism, Absent gallbladder OMIM:300712
Perrault Syndrome 4
Hypoplasia of the ovary, Increased circulating gonadotropin level, Bicornuate uterus, Premature o... OMIM:615300
Caroli Syndrome
Abnormality of the intrahepatic bile duct, Cholangitis, Hepatomegaly, Cholangiocarcinoma, Elevate... ORPHA:480520
Trisomy 8P
Aplasia/Hypoplasia of the gallbladder, Micropenis, Cryptorchidism, Annular pancreas ORPHA:264450
46,Xy Partial Gonadal Dysgenesis
Hypospadias, Elevated circulating follicle stimulating hormone level, Urogenital sinus anomaly, M... ORPHA:251510
Cataract 31, Multiple Types
Nuclear cataract, Posterior subcapsular cataract, Anterior subcapsular cataract OMIM:605387
Vitreoretinal Degeneration, Snowflake Type
Corneal guttata, Cataract OMIM:193230
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24
Biliary atresia ORPHA:565899
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Testicular adrenal rest tumor, Long penis, Polycystic ovaries, Ambiguous genitalia, female, Clito... ORPHA:90795
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Hepatomegaly, Pancreatic hypoplasia, Cholelithiasis, Biliary hyperplasia, Micropenis, Cryptorchidism ORPHA:83617
Norrie Disease
Opacification of the corneal stroma, Shallow anterior chamber, Cataract, Hypoplasia of the iris OMIM:310600
Hypospadias, Hepatomegaly, Abnormality of the gallbladder, Abnormality of the pancreas, Ambiguous... ORPHA:3376
Congenital Bile Acid Synthesis Defect Type 2
Abnormality of the intrahepatic bile duct, Hepatomegaly, Giant cell hepatitis, Elevated hepatic t... ORPHA:79303
Bardet-Biedl Syndrome 1
Abnormality of the ovary, Hepatic fibrosis, Left ventricular hypertrophy, Vaginal atresia, Microp... OMIM:209900
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Abnormal penis morphology, Goiter, Polycystic ovaries, Abnormal testis morphology, Precocious pub... ORPHA:457059
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Polycystic ovaries, Gonadal dysgenesis ORPHA:1770
Steinfeld Syndrome
Absent gallbladder OMIM:184705
Bohring-Opitz Syndrome
Cardiomegaly, Cholelithiasis, Annular pancreas ORPHA:97297
Autoimmune Polyendocrine Syndrome, Type Ii
Asplenia, Chronic hepatitis, Hepatitis, Cirrhosis, Cataract, Exocrine pancreatic insufficiency, B... OMIM:269200
Pancreatic Agenesis-Holoprosencephaly Syndrome
Pancreatic aplasia, Absent gallbladder ORPHA:556955
Proteus Syndrome
Ovarian neoplasm, Macroorchidism, Thymus hyperplasia, Long penis, Splenomegaly, Enlarged polycyst... ORPHA:744
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypospadias, Cryptorchidism, Micropenis, Absent gallbladder ORPHA:163979
45,X/46,Xy Mixed Gonadal Dysgenesis
Hypospadias, Bifid scrotum, Ambiguous genitalia, female, Urogenital sinus anomaly, Ambiguous geni... ORPHA:1772
Blindness-Scoliosis-Arachnodactyly Syndrome
Microphakia, Cataract, Lens subluxation ORPHA:171844
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Endometrial carcinoma, Pancreatic adenocarcinoma, Ovarian cyst ORPHA:454840
Acquired Generalized Lipodystrophy
Hepatomegaly, Polycystic ovaries, Cirrhosis, Hepatic steatosis, Acute pancreatitis ORPHA:79086
Chronic Visceral Acid Sphingomyelinase Deficiency
Hepatomegaly, Cholelithiasis, Neoplasm of the liver, Splenomegaly, Cirrhosis, Decreased liver fun... ORPHA:77293
Ring Chromosome 13 Syndrome
Hypospadias, Bifid scrotum, Urogenital sinus anomaly, Micropenis, Ambiguous genitalia, Hypoplasia... ORPHA:96176
Cowden Syndrome 6
Varicocele, Ovarian cyst, Goiter, Hydrocele testis OMIM:615109
Meckel Syndrome, Type 2
Bile duct proliferation OMIM:603194
Gallbladder Neuroendocrine Tumor
Ascites, Biliary tract obstruction, Biliary tract neoplasm, Extrahepatic cholestasis, Cholecystit... ORPHA:100086
Cataract 33, Multiple Types
Nuclear cataract, Lamellar cataract, Cortical cataract OMIM:611391
Abnormality of the ovary, Abnormal fallopian tube morphology, Cervicitis ORPHA:722
Vacterl/Vater Association
Hypospadias, Abnormality of the gallbladder, Bifid scrotum, Abnormal morphology of female interna... ORPHA:887
Opitz Gbbb Syndrome, Type Ii
Hypospadias, Cryptorchidism, Bifid scrotum, Absent gallbladder OMIM:145410
Steinert Myotonic Dystrophy
Testicular atrophy, Endometrial carcinoma, Secondary hyperparathyroidism, Cholelithiasis, Ovarian... ORPHA:273
Cowden Syndrome 5
Ovarian cyst, Goiter, Hydrocele testis OMIM:615108
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Abnormality of the spleen, Hepatic fibrosis, Azoospermia, Cholelithiasis, Splenomegaly, Hepatospl... ORPHA:2072
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Joubert Syndrome 6
Bile duct proliferation, Hepatic fibrosis OMIM:610688
22Q11.2 Deletion Syndrome
Hypospadias, Hypoparathyroidism, Hypoplasia of the thymus, Cholelithiasis, Splenomegaly, Abnormal... ORPHA:567
Cowden Syndrome 1
Goiter, Varicocele, Ovarian carcinoma, Ovarian cyst, Hydrocele testis OMIM:158350
Trisomy 10P
Rectovaginal fistula, Absent gallbladder ORPHA:171929
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Pancreatic hypoplasia, Aplasia/Hypoplasia of the gallbladder, Anterior pituitary agenesis, Biliar... ORPHA:2255
Fanconi Anemia, Complementation Group Q
Biliary atresia OMIM:615272
Isolated Ectopia Lentis
Cataract, Ectopia pupillae, Ectopia lentis ORPHA:1885
Coloboma, Ocular, Autosomal Recessive
Cataract, Lens subluxation, Iris coloboma OMIM:216820
Cerebrotendinous Xanthomatosis
Prolonged neonatal jaundice, Cholelithiasis ORPHA:909
Lipodystrophy, Congenital Generalized, Type 1
Hepatomegaly, Polycystic ovaries, Labial hypertrophy, Splenomegaly, Cirrhosis, Hepatic steatosis,... OMIM:608594
Proteus-Like Syndrome
Polycystic ovaries, Thymus hyperplasia, Abnormality of the parathyroid gland, Splenomegaly ORPHA:2969
Luscan-Lumish Syndrome
Polycystic ovaries OMIM:616831
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Microvesicular hepatic steatosis, Hepatomegaly, Bile duct proliferation, Micronodular cirrhosis, ... OMIM:203700
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Iris coloboma, Corneal opac... OMIM:221900
Lipodystrophy, Congenital Generalized, Type 2
Hepatomegaly, Polycystic ovaries, Labial hypertrophy, Splenomegaly, Cirrhosis, Hepatic steatosis,... OMIM:269700
Lipodystrophy, Familial Partial, Type 2
Hepatomegaly, Polycystic ovaries, Hepatic steatosis, Acute pancreatitis, Labial pseudohypertrophy OMIM:151660
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Absent gallbladder ORPHA:3186
Autosomal Recessive Polycystic Kidney Disease
Abnormality of the intrahepatic bile duct, Cholangitis, Cholangiocarcinoma, Hepatic fibrosis, Pan... ORPHA:731
Peters-Plus Syndrome
Hypospadias, Hypoplastic labia majora, Hypoplasia of the vagina, Bilobate gallbladder, Clitoral h... OMIM:261540
Hemihyperplasia-Multiple Lipomatosis Syndrome
Ovarian serous cystadenoma, Hydrocele testis, Enlarged kidney ORPHA:276280
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hepatomegaly, Polycystic ovaries, Pancreatitis, Splenomegaly, Hepatic steatosis ORPHA:280365
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Premature thelarche, Polycystic ovaries, Nodular goiter ORPHA:371428
Meckel Syndrome, Type 4
Bile duct proliferation OMIM:611134
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Aniridia 1
Corneal erosion, Anterior subcapsular cataract, Ectopia lentis, Hypoplasia of the iris, Aniridia,... OMIM:106210
Primary Biliary Cholangitis
Abnormality of the intrahepatic bile duct, Hepatic fibrosis, Hepatocellular carcinoma, Ascites, H... ORPHA:186
Digeorge Syndrome
Parathyroid hypoplasia, Parathyroid agenesis, Cholelithiasis OMIM:188400
Sandhoff Disease
Hepatomegaly, Hepatosplenomegaly, Exaggerated startle response OMIM:268800
Metachromatic Leukodystrophy, Adult Form
Neoplasm of the gallbladder, Cholecystitis ORPHA:309271
Williams Syndrome
Urethral stenosis, Hypogonadotropic hypogonadism, Polycystic ovaries, Cardiomegaly, Cholelithiasi... ORPHA:904
Tetrasomy 9P
Oligospermia, Absent gallbladder, Micropenis, Biliary atresia, Cryptorchidism, Jaundice ORPHA:3310
Heart Defects, Congenital, And Other Congenital Anomalies
Biliary atresia, Pancreatic hypoplasia, Absent gallbladder OMIM:600001
Zttk Syndrome
Absent gallbladder OMIM:617140
Cardiomegaly, Hepatomegaly, Abnormality of the gallbladder ORPHA:349
Hardikar Syndrome
Cholangitis, Hepatomegaly, Hepatic fibrosis, Elevated hepatic transaminase, Intrahepatic bile duc... OMIM:301068
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Orofaciodigital Syndrome I
Hepatic cysts, Pancreatic cysts, Hepatic fibrosis, Ovarian cyst OMIM:311200
Infantile Systemic Hyalinosis
Polycystic ovaries ORPHA:2176
Combined Oxidative Phosphorylation Deficiency 37
Macrovesicular hepatic steatosis, Bile duct proliferation, Decreased liver function, Elevated hep... OMIM:618329
Polycystic Kidney, Cataract, And Congenital Blindness
Microcoria, Cataract OMIM:263100
Chromosome 17Q12 Deletion Syndrome
Aplasia of the uterus, Urethral stenosis, Aplasia of the vagina, Unicornuate uterus, Elevated hep... OMIM:614527
Carney Complex
Oligospermia, Macroorchidism, Testicular adrenal rest tumor, Ovarian serous cystadenoma, Euthyroi... ORPHA:1359
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Oculoauricular Syndrome
Iris cyst, Developmental cataract, Posterior embryotoxon, Microphakia, Sclerocornea, Iris colobom... OMIM:612109
Fibrous Dysplasia Of Bone
Hyperpituitarism, Precocious puberty in females, Elevated circulating growth hormone concentratio... ORPHA:249
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Persistent Hyperplastic Primary Vitreous
Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Developmental cataract, Cor... ORPHA:91495
Alagille Syndrome 1
Hepatocellular carcinoma, Elevated hepatic transaminase, Posterior embryotoxon, Axenfeld anomaly,... OMIM:118450
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Pancreatic cysts, Hepatic fibrosis, Bile duct proliferation, Polycystic liver disease, Pancreatic... OMIM:208500
D-Bifunctional Protein Deficiency
Fetal ascites, Hepatomegaly, Bile duct proliferation, Splenomegaly, Hepatic steatosis, Cholestasi... OMIM:261515
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Lacrimal gland aplasia, Streak ovary, Elevated circulating follicle stimulating hormone level, Po... ORPHA:572333
Familial Adenomatous Polyposis
Neoplasm of the gallbladder, Cholangiocarcinoma, Goiter, Biliary tract obstruction, Pancreatic ad... ORPHA:733
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Biliary Malformation With Renal Tubular Insufficiency
Biliary hyperplasia, Jaundice OMIM:210550
Autosomal Dominant Optic Atrophy And Cataract
Postural tremor, Cerulean cataract, Posterior subcapsular cataract, Anterior subcapsular cataract... ORPHA:67036
Meckel Syndrome, Type 1
Malformation of the hepatic ductal plate, Asplenia, Bile duct proliferation, External genital hyp... OMIM:249000
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response ORPHA:320406
Stiff-Person Syndrome
Opisthotonus, Exaggerated startle response OMIM:184850
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatomegaly, Hepatocellular carcinoma, Increased hepatic glycogen content, Polycystic ovaries, H... ORPHA:79259
Cranioectodermal Dysplasia 2
Cholangitis, Hepatomegaly, Portal fibrosis, Bile duct proliferation, Splenomegaly, Left ventricul... OMIM:613610
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Absent gallbladder ORPHA:500150
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response, Cataract OMIM:253800
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response OMIM:272750
Histiocytoid Cardiomyopathy
Hepatomegaly, Polycystic ovaries, Cardiomegaly ORPHA:137675
Asparagine Synthetase Deficiency
Exaggerated startle response OMIM:615574
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Hypospadias, Bifid scrotum, Chordee, Vesicovaginal fistula, Labial hypoplasia, Polycystic ovaries... OMIM:201750
Gm1 Gangliosidosis Type 1
Hepatosplenomegaly, Exaggerated startle response ORPHA:79255
Rajab Interstitial Lung Disease With Brain Calcifications 1
Ascites, Bile duct proliferation, Small scrotum, Cirrhosis, Hepatic steatosis, Decreased liver fu... OMIM:613658
Aromatic L-Amino Acid Decarboxylase Deficiency
Limb tremor, Exaggerated startle response OMIM:608643
Cystic Fibrosis With Helicobacter Pylori Gastritis, Megaloblastic Anemia, And Mental Retardation
Hypospadias, Biliary tract obstruction, Exocrine pancreatic insufficiency, Biliary cirrhosis, Sha... OMIM:219721
Congenital Disorder Of Glycosylation, Type Iiw
Hepatomegaly, Increased hepatic echogenicity, Elevated hepatic transaminase, Bile duct proliferat... OMIM:619525
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Testicular adrenal rest tumor, Aplasia of the uterus, Fused labia majora, Precocious puberty in f... ORPHA:90794
Turner Syndrome
Abnormality of the ovary, Hepatic fibrosis, Gonadoblastoma, Increased circulating gonadotropin le... ORPHA:881
Mosaic Monosomy X
Abnormality of the ovary, Hepatic fibrosis, Gonadoblastoma, Increased circulating gonadotropin le... ORPHA:99228
Monosomy X
Abnormality of the ovary, Hepatic fibrosis, Gonadoblastoma, Increased circulating gonadotropin le... ORPHA:99226
Turner Syndrome Due To Structural X Chromosome Anomalies
Abnormality of the ovary, Hepatic fibrosis, Gonadoblastoma, Increased circulating gonadotropin le... ORPHA:99413
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response OMIM:617301
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Exaggerated startle response ORPHA:438216
Combined Immunodeficiency-Enteropathy Spectrum
Peritoneal abscess, Hypoplasia of the thymus, Hepatitis, Abnormality of the ductus choledochus ORPHA:436252
Tay-Sachs Disease
Tremor, Exaggerated startle response ORPHA:845
Enlargement of parotid gland, Abnormal biliary tract morphology ORPHA:252183
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response OMIM:617527
Plaa-Associated Neurodevelopmental Disorder
Exaggerated startle response ORPHA:521426
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hepatomegaly, Hepatic fibrosis, Ascites, Congenital hepatic fibrosis, Bile duct proliferation, Sp... OMIM:619534
Smith-Lemli-Opitz Syndrome
Hypospadias, Abnormality of the gallbladder, Clitoral hypertrophy, Ambiguous genitalia, Cryptorch... ORPHA:818
Wolf-Hirschhorn Syndrome
Hypospadias, Cryptorchidism, Abdominal situs inversus, Abnormality of the gallbladder ORPHA:280
Alström Syndrome
Oligospermia, Hepatitis, Splenomegaly, Elevated circulating thyroid-stimulating hormone concentra... ORPHA:64
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response OMIM:619522
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Exaggerated startle response ORPHA:438213


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 Shank1

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 Shank1.

No publications found that use IMPC mice or data for Shank1.

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MGI Allele Allele Type Produced
Shank1em1(IMPC)Mbp Exon Deletion Mice, Tissue
Shank1tm39541(L1L2_gt2) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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