Gene Summary

AP2 associated kinase 1
D6Ertd245e,  5530400K14Rik

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
decreased grip strength Aak1tm1b(EUCOMM)Hmgu HOM   Early adult 4.91×10-06
abnormal retina outer nuclear layer morphology Aak1tm1b(EUCOMM)Hmgu HOM   Early adult 6.76×10-05
abnormal heart left ventricle morphology Aak1tm1b(EUCOMM)Hmgu HOM   Early adult 3.41×10-05
increased circulating aspartate transaminase level Aak1tm1b(EUCOMM)Hmgu HOM Early adult 3.45×10-15
decreased startle reflex Aak1tm1b(EUCOMM)Hmgu HOM Early adult 5.19×10-07
abnormal bone structure Aak1tm1b(EUCOMM)Hmgu HOM Early adult 3.80×10-10
decreased circulating serum albumin level Aak1tm1b(EUCOMM)Hmgu HOM Early adult 4.81×10-05
abnormal contextual conditioning behavior Aak1tm1b(EUCOMM)Hmgu HOM   Early adult 3.39×10-05
abnormal auditory brainstem response Aak1tm1b(EUCOMM)Hmgu HOM   Early adult 4.27×10-16
short tibia Aak1tm1b(EUCOMM)Hmgu HOM Early adult 4.70×10-14
increased vertical activity Aak1tm1b(EUCOMM)Hmgu HOM Early adult 3.21×10-13
decreased circulating cholesterol level Aak1tm1b(EUCOMM)Hmgu HOM   Early adult 5.63×10-05
increased circulating alkaline phosphatase level Aak1tm1b(EUCOMM)Hmgu HOM Early adult 3.27×10-11
increased prepulse inhibition Aak1tm1b(EUCOMM)Hmgu HOM Early adult 3.04×10-06
preweaning lethality, incomplete penetrance Aak1tm1b(EUCOMM)Hmgu HOM   Early adult 0.00
impaired glucose tolerance Aak1tm1b(EUCOMM)Hmgu HOM Early adult 8.41×10-05
increased circulating alanine transaminase level Aak1tm1b(EUCOMM)Hmgu HOM Early adult 5.01×10-05
decreased circulating total protein level Aak1tm1b(EUCOMM)Hmgu HOM Early adult 7.20×10-07
hyperactivity Aak1tm1b(EUCOMM)Hmgu HOM   Early adult 3.54×10-05

Download data as:  TSV  XLS

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


XRay Images Whole Body Dorso Ventral

16 Images


XRay Images Whole Body Lateral Orientation

16 Images

Human diseases caused by Aak1 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 Aak1 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Citrullinemia Type Ii
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Abnorm... ORPHA:247585
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Pes cavus, Steppage gait, Decreased motor nerve conduction velocity, Ataxia, Hypoalbuminemia, Hyp... OMIM:607250
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Limb ataxia, Pes cavus, Truncal ataxia, Tremor, Elevated circulating creatine kinase concentratio... OMIM:208920
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Pes cavus, Distal lower limb muscle weakness, Steppage gait, Ataxia, Hypoalbuminemia, Hypercholes... ORPHA:94124
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased circulating apolipoprotei... OMIM:620058
Congenital Disorder Of Glycosylation, Type Ij
Clinodactyly of the 5th finger, Hypsarrhythmia, Hypoproteinemia, Tremor, Micrognathia, Aggressive... OMIM:608093
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Hypoalbuminemia, Cardiomyopathy, Increased circulating creatine kinase MM isoform, Hypermethionin... OMIM:613752
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia, Clinodactyly of the 5th finger, Chorioretinal coloboma ORPHA:1116
Low-set ears, Shortening of all distal phalanges of the fingers, Decreased LDL cholesterol concen... ORPHA:79320
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Hypoalbuminemia, Craniosynostosis ORPHA:88643
Lymphangiectasia, Intestinal
Stillbirth, Neonatal hypoproteinemia, Pedal edema OMIM:152800
Immunodeficiency 43
Hypoplasia of the ulna, Hypoproteinemia, Decreased circulating beta-2-microglobulin level, Radial... OMIM:241600
Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Osteopor... OMIM:616000
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Aplasia/Hypoplasia of metat... OMIM:200700
Diarrhea 13
Hypoalbuminemia, Recurrent hypoglycemia OMIM:620357
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Gait imbalance, Elevated circulating creatine kinase concentration, Head tremor, Dystonia, Ataxia... ORPHA:64753
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Cholestasis, Progressive Familial Intrahepatic, 10
Increased serum bile acid concentration, Increased total bilirubin, Conjugated hyperbilirubinemia... OMIM:619868
Fibular Hemimelia
Abnormal bone ossification, Proximal femoral focal deficiency, Abnormal lower limb bone morpholog... ORPHA:93323
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hypercholesterolemia, Hyperlipidemia OMIM:615863
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Sensorineural hearing impairment, Hypoproteinemia OMIM:221400
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:267700
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Ankle flexion contracture, Sensorineural hearing impairment, Facial palsy, Absent brainstem audit... OMIM:617519
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Epiphyseal stippling, Short 2nd metacarpal, Short long bone, Micromelia, Sh... OMIM:118651
Ataxia-Oculomotor Apraxia 4
Cognitive impairment, Dystonia, Ataxia, Elevated circulating alpha-fetoprotein concentration, Hyp... OMIM:616267
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Osteopenia, Hypocholesterolemia, Erlenmeyer flask deformity of the femurs, Intention tremor OMIM:610539
Osteopenia, Hip subluxation, Abnormal long bone morphology, Inability to walk, Talipes equinovaru... ORPHA:356961
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Hypoproteinemia, Hyperlipidemia OMIM:256300
Chylomicron Retention Disease
Steatorrhea, Hypotriglyceridemia, Decreased LDL cholesterol concentration, Hypoalbuminemia, Hypoc... OMIM:246700
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Galloway-Mowat Syndrome 6
Hypoalbuminemia, Clinodactyly of the 5th finger, Motor stereotypy, Paroxysmal bursts of laughter OMIM:618347
Immunodeficiency 115 With Autoinflammation
Elevated circulating C-reactive protein concentration, Clubbing, Elevated haptoglobin level, Hypo... OMIM:620632
Ménétrier Disease
Anorexia, Hypoalbuminemia, Hypoproteinemia ORPHA:2494
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrial septal defect, Hypoketotic hypoglycemia, Hypocalcemia, Patent foramen ovale, Hypoproteinem... ORPHA:26793
Syndactyly Type 4
Triphalangeal thumb, 6 metacarpals, 1-5 finger syndactyly, Foot polydactyly, Camptodactyly of fin... ORPHA:93405
Coenzyme Q10 Deficiency, Primary, 3
Hypoalbuminemia OMIM:614652
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia, Drusen ORPHA:54370
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Abnormally shaped carpal bo... OMIM:201250
Refractory Celiac Disease
Hypocalcemia, Hypoproteinemia, Osteoporosis, Hypomagnesemia, Hypophosphatemia, Hypoalbuminemia ORPHA:398063
Potocki-Lupski Syndrome
Atrial septal defect, Oral-pharyngeal dysphagia, Hyperactivity, Patent foramen ovale, Hearing imp... OMIM:610883
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Increased alpha-globulin, Hypercholesterolemia,... ORPHA:86816
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia OMIM:207731
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Osebold-Remondini Syndrome
Hypoplasia of the ulna, Broad finger, Fibular hypoplasia, Tarsal synostosis, Hypoplasia of the ra... OMIM:112910
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Mohr-Tranebjaerg Syndrome
Optic atrophy, Postlingual sensorineural hearing impairment, Prelingual sensorineural hearing imp... ORPHA:52368
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Nephrotic Syndrome, Type 11
Arachnodactyly, Partial duplication of thumb phalanx, Micrognathia, Hypoalbuminemia, Dilated card... OMIM:616730
Lethal Faciocardiomelic Dysplasia
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Radial club hand, Sandal ga... ORPHA:1972
Johanson-Blizzard Syndrome
Dextrocardia, Sensorineural hearing impairment, Hypoproteinemia, Diabetes mellitus, Abnormal card... ORPHA:2315
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hyperactivity, Bilateral coxa valga, Tremor, Limb dystonia, Hypertrophic cardiomyopathy, Hearing ... OMIM:620270
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Clubbing, Hypoalbuminemia, Hypoproteinemia, Clubbing of fingers OMIM:226300
Galloway-Mowat Syndrome 8
Hearing impairment, Hypoalbuminemia OMIM:618349
Nephrotic Syndrome, Type 7
Hypoalbuminemia OMIM:615008
Léri-Weill Dyschondrosteosis
Abnormal femur morphology, Abnormal hip bone morphology, Tibial bowing, Mesomelia, Abnormal epiph... ORPHA:240
Acromesomelic Dysplasia, Grebe Type
Fibular hypoplasia, Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyl... ORPHA:2098
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia, Hyperactivity, Tremor, Dystonia, Ataxia, Mental deterioration OMIM:615924
Leri-Weill Dyschondrosteosis
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal carpal morphology, Fibular hypoplasia,... OMIM:127300
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypertriglyceridemia, Hypoproteinemia, Increased total bilirubin, Hyponatremia, Ataxia, Hypoalbum... OMIM:603553
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Delayed ossification ... OMIM:607778
Focal Segmental Glomerulosclerosis 1
Hypoalbuminemia, Hyperlipidemia OMIM:603278
Immunodeficiency 27A
Anorexia, Hypoalbuminemia, Hypoplasia of the femoral head OMIM:209950
Hyperprolinemia, Type I
Hyperactivity, Ataxia, Motor stereotypy, EEG abnormality, Hyperprolinemia, Aggressive behavior OMIM:239500
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia, Dilated cardiomyopathy, Broad-based gait OMIM:618805
Fibronectin Glomerulopathy
Hypoalbuminemia, Pedal edema ORPHA:84090
Peroxisome Biogenesis Disorder 3B
Steatorrhea, Retinal dystrophy, Sensorineural hearing impairment, Osteoporosis, Elevated circulat... OMIM:266510
Maternal Uniparental Disomy Of Chromosome 4
Optic atrophy, Spastic gait, Calf muscle pseudohypertrophy, Sensorineural hearing impairment, Ele... ORPHA:96180
Hypoalbuminemia, Abnormal heart morphology, Cardiomyopathy ORPHA:79327
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Mesomelic arm shortening, R... OMIM:249700
Primary Intestinal Lymphangiectasia
Hypocalcemia, Hypoproteinemia, Pericardial effusion, Hypomagnesemia, Hypoalbuminemia ORPHA:90362
Reni Syndrome
Hypertriglyceridemia, Sensorineural hearing impairment, Ataxia, Hypoalbuminemia, Hypoglycemia, Me... OMIM:617575
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemic seizures, Atrial septal defect, Hyperinsulinemia, Hyperammonemia, Increased C-peptid... OMIM:620211
Chédiak-Higashi Syndrome
Hypertriglyceridemia, Decreased nerve conduction velocity, Inability to walk, Hypoproteinemia, Tr... ORPHA:167
Congenital Disorder Of Glycosylation, Type Ig
Hypoplasia of the radius, Rhizomelia, Sandal gap, Retinal detachment, Hypocalcemia, Abnormal pinn... OMIM:607143
Congenital Disorder Of Glycosylation, Type Ih
Perimembranous ventricular septal defect, Low-set ears, Camptodactyly, Neonatal death, Hypoalbumi... OMIM:608104
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypocalcemia, Hypoproteinemia, Postaxial hand polydactyly, Low-set ears, Micrognathia, Ventricula... OMIM:235255
Congenital Disorder Of Glycosylation, Type Il
Atrial septal defect, Low-set ears, Pericardial effusion, Hypoalbuminemia, Hypocholesterolemia, H... OMIM:608776
Phoar2-Enteropathy Syndrome
Hyperostosis, Hypoalbuminemia, Clubbing, Periostosis OMIM:614441
Squalene Synthase Deficiency
Slender long bone, Optic nerve hypoplasia, Increased circulating farnesol concentration, 2-3 toe ... OMIM:618156
Stxbp1-Related Encephalopathy
Inability to walk, Hyperactivity, Hypsarrhythmia, Tremor, EEG with focal epileptiform discharges,... ORPHA:599373
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Hypoalbuminemia, Arachnodactyly OMIM:619013
Dengue Fever
Hypoproteinemia ORPHA:99828
S-Adenosylhomocysteine Hydrolase Deficiency
Abnormal circulating homocysteine concentration, Abnormal circulating methionine concentration, H... ORPHA:88618
Charcot-Marie-Tooth Disease, Type 4B1
Facial palsy, Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Tal... OMIM:601382
Congenital Enterocyte Heparan Sulfate Deficiency
Hypoalbuminemia, Abnormal circulating polysaccharide concentration, Abnormal circulating protein ... ORPHA:103910
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Pericardial lymphangiectasia, Hyperactivity, Hypoplastic iliac wing, Sensorineural hearing impair... OMIM:235510
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypocalcemia, Hypoproteinemia, Postaxial hand polydactyly, Low-set ears, Micrognathia, Ventricula... ORPHA:1655
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Increased LDL cholesterol concentration, Impaired glucose tolerance, Osteop... OMIM:610947
Fraxe Intellectual Disability
Agitation, Clinodactyly of the 5th finger, Hyperactivity, Prominent ear helix, Recurrent hand fla... ORPHA:100973
Decreased HDL cholesterol concentration, Steatorrhea, Hypotriglyceridemia, Gait ataxia, Ataxia, C... ORPHA:14
Hypobetalipoproteinemia, Familial, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Steatorrhea, Hypocholesterolemia, ... OMIM:615558
Combined Oxidative Phosphorylation Deficiency 37
Optic atrophy, Chorioretinal hyperpigmentation, Sensorineural hearing impairment, Hyperalaninemia... OMIM:618329
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Autoinflammation With Infantile Enterocolitis
Hypoalbuminemia, Increased circulating ferritin concentration, Elevated circulating C-reactive pr... OMIM:616050
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Pes cavus, Temporal optic disc pallor, Sensorineural hearing impairment, Cardiomyo... ORPHA:1215
Abnormal bone ossification, Muscular ventricular septal defect, Clinodactyly of the 5th finger, P... ORPHA:79324
Wolcott-Rallison Syndrome
Difficulty walking, Hyperbilirubinemia, Hyperammonemia, Hyponatremia, Metaphyseal dysplasia, Doub... ORPHA:1667
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Deafness, Autosomal Recessive 104
Prelingual sensorineural hearing impairment, Absent brainstem auditory responses OMIM:616515
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Dilated cardiomyopathy, Hypoproteinemia, Cardiomyopathy, Elevated circulating creatine kinase con... OMIM:615895
Congenital Disorder Of Glycosylation, Type Ia
Osteopenia, Steatorrhea, Tremor, Cardiomyopathy, Intention tremor, Macrotia, Pericarditis, Perica... OMIM:212065
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Intention tremor, Action tremor, Gait ataxia, Unsteady gait, Dysphagia, Postural tremor, Hypoalbu... OMIM:254900
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Anorexia, Hypoalbuminemia ORPHA:507
Eosinophilic Gastroenteritis
Hypoalbuminemia, Steatorrhea, Dysphagia, Elevated circulating C-reactive protein concentration ORPHA:2070
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypoalbuminemia, EEG abnormality, Ventricular septal defect, Overriding aorta OMIM:617021
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Increased serum bile acid concentration, Decreased circulating ceruloplasmin concentration, Decre... OMIM:242150
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Fibular hypoplasia, Abnormal foot morphology, Anterior tibial bowing, Dislocated... OMIM:605274
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
Optic Atrophy 11
Optic atrophy, Decreased sensory nerve conduction velocity, Hyperactivity, Optic nerve hypoplasia... OMIM:617302
Aicardi-Goutieres Syndrome 9
Optic atrophy, Chorioretinal atrophy, Osteoporosis, Pericarditis, Pericardial effusion, Dystonia,... OMIM:619487
Hypoalbuminemia, Hyperinsulinemic hypoglycemia ORPHA:79319
Fibular aplasia, Aplasia of the ulna, Aplasia of the tarsal bones, Carpal bone aplasia, Absent to... OMIM:200500
Landau-Kleffner Syndrome
Steppage gait, Memory impairment, Hyperactivity, Short attention span, Impulsivity, EEG with fron... ORPHA:98818
Stuve-Wiedemann Syndrome 1
Flexion contracture of toe, Short long bone, Femoral bowing, Clubbing, Tibial bowing, Abnormal au... OMIM:601559
Glycine Encephalopathy 1
Hyperactivity, Impulsivity, Restlessness, Hyperglycinemia, Aggressive behavior OMIM:605899
Autosomal Recessive Spastic Paraplegia Type 44
Pes cavus, Difficulty walking, Sensorineural hearing impairment, Abnormal auditory evoked potenti... ORPHA:320401
Neurodegeneration And Seizures Due To Copper Transport Defect
Abnormal circulating ceruloplasmin concentration, Abnormal circulating copper concentration, Card... OMIM:620306
Mucopolysaccharidosis-Plus Syndrome
Optic atrophy, Inability to walk, Clubbing, Flared iliac wing, Hypertrophic cardiomyopathy, Chori... OMIM:617303
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Fibular hypoplasia, Absent thumb, Aplasia/Hypoplasia of the radius, Short... OMIM:612447
Insulin-Resistance Syndrome Type B
Abnormal circulating lipid concentration, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Fastin... ORPHA:2298
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal auditory evoked potentials, Gait disturbance, Abnormal amplitude of patte... OMIM:125250
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Hypernatremia, Neonatal hy... ORPHA:529808
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Hypernatremia, Neonatal hy... ORPHA:529799
Orofaciodigital Syndrome Type 10
Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Mesomelic arm shortening, Short 4th fin... ORPHA:2756
Acrofacial Dysostosis Syndrome Of Rodriguez
Fibular hypoplasia, Triphalangeal thumb, 11 pairs of ribs, Oligodactyly, Low-set ears, Micrognath... OMIM:201170
Nephrotic Syndrome, Type 8
Hypoalbuminemia, Sensorineural hearing impairment OMIM:615244
Late-Infantile/Juvenile Krabbe Disease
Pes cavus, Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction... ORPHA:206443
Ravine Syndrome
Anorexia, Abnormal auditory evoked potentials, Ataxia ORPHA:99852
Orofaciodigital Syndrome Viii
Polydactyly, Short tibia, Syndactyly OMIM:300484
Smith-Magenis Syndrome
Hypertriglyceridemia, Abnormal middle ear morphology, Abnormal nerve conduction velocity, Retinal... OMIM:182290
Optic Atrophy 8
Optic atrophy, Abnormality of pattern visual evoked potentials, Sensorineural hearing impairment,... OMIM:616648
Al Amyloidosis
Increased circulating NT-proBNP concentration, Abnormal cardiac ventricle morphology, Monoclonal ... ORPHA:85443
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Increased total bilirubin, Hypoalbuminemia, Hyperkalemia, Conjugated hyperbilirubinemia OMIM:618528
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentra... ORPHA:567548
Tibial Hemimelia
Aplasia of the 4th metacarpal, Proximal tibial and fibular fusion, Oligodactyly, Increased laxity... ORPHA:93322
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Fibular aplasia, Tibial bowing, Finger aplasia, Foot oligodactyly, Syndactyly, Short tibia OMIM:246570
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Hypsarrhythmia, Impulsivity, Ataxia, Attention deficit hyperactivity disorder OMIM:617113
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia, Steatorrhea, Hyperinsulinemic hypoglycemia OMIM:602579
Eiken Syndrome
Fibular hypoplasia, Abnormal bone ossification, Delayed epiphyseal ossification, Abnormal acetabu... ORPHA:79106
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... ORPHA:247598
Omenn Syndrome
Hypoproteinemia OMIM:603554
Lymphoproliferative Syndrome, X-Linked, 1
Hypoalbuminemia, Elevated circulating C-reactive protein concentration OMIM:308240
Cerebrotendinous Xanthomatosis
Abnormal femur morphology, Abnormal finger morphology, Cognitive impairment, Abnormal atrial sept... ORPHA:909
Endove Syndrome, Limb-Only Type
Fibular hypoplasia, Disproportionate shortening of the tibia, Aplasia of the distal phalanges of ... OMIM:619217
Microcephaly-Micromelia Syndrome
Oligodactyly, Low-set ears, Missing ribs, Micromelia, Forearm undergrowth, Humeroradial synostosi... OMIM:251230
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Prelingual sensorineural hearing impairment, Clinodactyly of the 5th finger, Hyperactivity, Senso... ORPHA:73272
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertriglyceridemia, Hyperinsulinemia, Progressive psychomotor deterioration, Hyperactivity, Tre... ORPHA:363400
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Neonatal hypoglycemia, Elevated circulating creatine kinase concentration, Neonatal death, Hypoal... OMIM:619055
Myopathy With Extrapyramidal Signs
Optic atrophy, Hypervalinemia, Difficulty walking, Hyperactivity, Calf muscle hypertrophy, Tremor... OMIM:615673
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hypocholesterol... OMIM:616834
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Sensorineural hearing impairment, Hyperammonemia, Conjugated hyperbilirubinemia, Decreased serum ... OMIM:617093
Pierson Syndrome
Retinal detachment, Hypoproteinemia, Remnants of the hyaloid vascular system, Retinal hemorrhage,... OMIM:609049
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Macular coloboma, Irregular epiphyses, Geographic atrophy, Sensorineural hearing impairment, Abno... OMIM:619260
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hypoalbuminemia, Dilated cardiomyopathy, Abnormal cardiomyocyte morphology ORPHA:367
Hepatoportal Sclerosis
Hypoalbuminemia, Hyperbilirubinemia, Cognitive impairment ORPHA:64743
Wilson Disease
Decreased nerve conduction velocity, Decreased circulating ceruloplasmin concentration, Dementia,... OMIM:277900
Succinic Semialdehyde Dehydrogenase Deficiency
Hyperactivity, Elevated circulating gamma-aminobutyric acid concentration, Ataxia, Self-injurious... OMIM:271980
Immunodeficiency 32B
Hypoalbuminemia OMIM:226990
Pancreatic Lipase Deficiency
Hypocholesterolemia, Steatorrhea OMIM:614338
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder, Continuous spike and waves during slow s... OMIM:301008
Charcot-Marie-Tooth Disease, Type 4D
Pes cavus, Decreased nerve conduction velocity, Hammertoe, Sensorineural hearing impairment, Abno... OMIM:601455
Galloway-Mowat Syndrome 1
Optic atrophy, Pes cavus, Low-set ears, Camptodactyly, Slender finger, Macrotia, Hand clenching, ... OMIM:251300
Macrophage Activation Syndrome
Hypertriglyceridemia, Hypoalbuminemia, Increased circulating ferritin concentration, Elevated cir... ORPHA:158061
Congenital Enterovirus Infection
Myocarditis, Cardiomyopathy, Hyperammonemia, Pericardial effusion, Hypoalbuminemia ORPHA:292
Liver Disease, Severe Congenital
Left atrial enlargement, Hypoproteinemia, Hyperammonemia, Cardiomegaly, Hypocalcemia, Patent fora... OMIM:619991
Microphthalmia With Limb Anomalies
Sandal gap, Tibial bowing, Short long bone, Broad thumb, Hip dislocation, Optic atrophy, Fibular ... ORPHA:1106
Hyperactivity, Hyperphenylalaninemia, Compulsive behaviors, Attention deficit hyperactivity disor... OMIM:261600
Smith-Lemli-Opitz Syndrome
Proximal placement of thumb, Hyperactivity, Overlapping toe, Hypocholesterolemia, Talipes calcane... OMIM:270400
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Aplasia/hypoplasia of the femur, Proximal placement of thumb, Hypoplastic pubic ramus, Dislocated... OMIM:609945
Liver Failure, Infantile, Transient
Hypoalbuminemia, Hyperbilirubinemia OMIM:613070
Refractory Anemia With Excess Blasts
Pedal edema, Abnormal circulating albumin concentration, Retinal hemorrhage, Abnormal circulating... ORPHA:86839
Charcot-Marie-Tooth Disease Type 1F
Limb ataxia, Pes cavus, Distal lower limb muscle weakness, Decreased nerve conduction velocity, S... ORPHA:101085
Orofaciodigital Syndrome Iv
Short finger, Low-set ears, Foot polydactyly, Postaxial polydactyly, Hand polydactyly, Micrognath... OMIM:258860
Familial Hemophagocytic Lymphohistiocytosis
Hypertriglyceridemia, Hypoalbuminemia, Sensorineural hearing impairment, Increased circulating fe... ORPHA:540
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication, Short tibia OMIM:188740
Hyperlysinemia, Type I
Hyperactivity, Optic nerve hypoplasia, Dysdiadochokinesis, Short attention span, Hyperlysinemia, ... OMIM:238700
Bent Bone Dysplasia Syndrome 2
Osteopenia, Ulnar bowing, Bowed humerus, Hypoplastic iliac wing, Hypoplastic acetabulae, Femoral ... OMIM:620076
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia, Micrognathia, Hypertrophic cardiomyopathy, Neonatal death OMIM:618810
Avian Influenza
Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevated circulating C-react... ORPHA:454836
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Mitten deformity, Decreased circulating carnitine concentration, Decreased circulating iron conce... ORPHA:89842
Orofaciodigital Syndrome Ix
Camptodactyly, Retinal coloboma, Hand polydactyly, Toe syndactyly, Short tibia OMIM:258865
Diarrhea 10, Protein-Losing Enteropathy Type
Hypertriglyceridemia, Hypocalcemia, Low-set ears, Hyponatremia, Micrognathia, Pericardial effusio... OMIM:618183
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Multiple muscular ventricular septal defects, Pulmonic stenosis, Hypernatremia, Palmoplantar kera... OMIM:615508
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia ORPHA:656
Xfe Progeroid Syndrome
Optic atrophy, Pes cavus, Hearing impairment, Attenuation of retinal blood vessels, Hypoalbuminemia OMIM:610965
Trichohepatoenteric Syndrome 1
Abnormality of iron homeostasis, Microtia, Hypergalactosemia, Low-set ears, Ventricular septal de... OMIM:222470
Neurodevelopmental Disorder With Microcephaly And Movement Abnormalities
Hyperactivity, Low-set ears, Waddling gait, Impulsivity, Coxa vara, Gait ataxia, Talipes equinova... OMIM:620445
Late Infantile Neuronal Ceroid Lipofuscinosis
Obsessive-compulsive trait, Multifocal epileptiform discharges, EEG with spike-wave complexes, In... ORPHA:168491
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Hyperactivity, Tremor, Low-set ears, Motor stereotypy, Self-injurious behavior... OMIM:618718
Bacterial Toxic-Shock Syndrome
Myocarditis, Hypocalcemia, Abnormality of the lower limb, Confusion, Elevated circulating creatin... ORPHA:36234
Metaphyseal Dysplasia, Braun-Tinschert Type
Exostoses of the ulna, Tibial bowing, Wide proximal femoral metaphysis, Broad femoral neck, Hypop... ORPHA:85188
Mend Syndrome
Hyperactivity, 2-3 toe syndactyly, Abnormal auditory evoked potentials, Low-set ears, Aortic valv... ORPHA:401973
Charcot-Marie-Tooth Disease, Type 4C
Pes cavus, Delayed brainstem auditory evoked response conduction time, Difficulty walking, Hammer... OMIM:601596
Bile Acid Synthesis Defect, Congenital, 1
Rickets, Hypocholesterolemia, Conjugated hyperbilirubinemia, Steatorrhea OMIM:607765
Generalized Pustular Psoriasis
Elevated circulating C-reactive protein concentration, Hypocalcemia, Hyponatremia, Hypoalbuminemi... ORPHA:247353
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Head titubation, Increased circulating ferritin concentration, Absent brainstem auditory response... ORPHA:3240
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Optic atrophy, Inability to walk, Patent foramen ovale, Hypertrophic cardiomyopathy, Abnormality ... ORPHA:505248
Tay-Sachs Disease
Optic atrophy, Inability to walk, Ankle clonus, Memory impairment, Increased serum beta-hexosamin... ORPHA:845
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Rickets, Difficulty walking, Fibular bowing, Delayed epiphyseal ossification, Hypocalcemia, Enlar... OMIM:600081
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Narrow greater sciatic notch, Stillbirth, Fibular hypoplasia, Preaxial polydactyly, Rhizomelia, U... OMIM:616300
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Inappropriate behavior, Nail-biting, Memory impairment, Hyperactivity, EEG with generalized epile... OMIM:619827
Tibial Aplasia-Ectrodactyly Syndrome
Abnormal fibula morphology, Fibular hypoplasia, Abnormal femur morphology, Finger syndactyly, Fem... ORPHA:3329
Adult-Onset Autosomal Dominant Leukodystrophy
Spastic gait, Sensorineural hearing impairment, Abnormal autonomic nervous system physiology, Cog... ORPHA:99027
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoalbuminemia, Hypoglycemia, Hyperbilirubinemia, Elevated circulating alpha-fetoprotein concent... OMIM:251880
Robin Sequence With Cleft Mandible And Limb Anomalies
Mesomelic arm shortening, Proximal placement of thumb, Short metacarpal, Short 5th finger, 4-5 me... OMIM:268305
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Rickets, Genu valgum, Fibular bowing, Generalized bone demineralization, Rickets of the lower lim... OMIM:600785
Gollop-Wolfgang Complex
Ectrodactyly, Hand monodactyly, Aplasia/Hypoplasia of the tibia, Bifid femur, Aplasia/Hypoplasia ... ORPHA:1986
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Finger symphalangism, Contracture of the proximal interphalangeal joint of the 4th finger, Absent... OMIM:612576
Femoral-Facial Syndrome
Abnormal fibula morphology, Maternal diabetes, Microtia, Low-set ears, Abnormal pelvic girdle bon... ORPHA:1988
Galloway-Mowat Syndrome 3
Low-set ears, Camptodactyly, Arachnodactyly, Micrognathia, Hypoalbuminemia, Hip dislocation OMIM:617729
Amoebiasis Due To Entamoeba Histolytica
Abnormal pericardium morphology, Hypoalbuminemia, Constrictive pericarditis ORPHA:67
Chromosome 2Q37 Deletion Syndrome
Type E brachydactyly, Hyperactivity, Sensorineural hearing impairment, Short metacarpal, Stereoty... OMIM:600430
Gaisböck Syndrome
Hypertriglyceridemia, Hyperuricemia, Increased circulating renin level, Hyperproteinemia, Diabete... ORPHA:90041
Hypophosphatemic Rickets, X-Linked Dominant
Rickets, Hypophosphatemic rickets, Fibular bowing, Genu valgum, Cupped metaphyses of hand bones, ... OMIM:307800
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Hypoplastic pubic bone, A... OMIM:617925
Juvenile Polyposis Of Infancy
Midclavicular hypoplasia, Clubbing of fingers, Broad phalanx of the toes, Low-set ears, Broad thu... ORPHA:79076
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Xanthelasma, Steatorrhea, Orthostatic hypotension, Oste... ORPHA:186
Ataxia With Vitamin E Deficiency
Hypertriglyceridemia, Xanthelasma, Progressive cerebellar ataxia, Increased LDL cholesterol conce... OMIM:277460
Intellectual Developmental Disorder, Autosomal Recessive 38
Sandal gap, Hyperactivity, Recurrent hand flapping, Diminished ability to concentrate, Unsteady g... OMIM:615516
Multiple Mitochondrial Dysfunctions Syndrome 7
Agitation, Hyperactivity, Hypsarrhythmia, Impulsivity, Exaggerated startle response, Partial atri... OMIM:620423
8p23.1 deletion syndrome
Hyperactivity, Atrial septal defect, Atrioventricular canal defect, Abnormal heart morphology DECIPHER:39
Orofaciodigital Syndrome Type 2
Protruding ear, Central retinal vessel vascular tortuosity, Finger clinodactyly, Atrioventricular... ORPHA:2751
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Hyperbilirubinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypoglycemi... OMIM:617156
Dubowitz Syndrome
Clinodactyly of the 5th finger, Hyperactivity, Low-set ears, Short attention span, Micrognathia, ... OMIM:223370
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Anorexia, Focal EEG discharges with secondary generalization, Abnormal fear-induced behavior, Bro... ORPHA:3077
Laurin-Sandrow Syndrome
Triphalangeal thumb, Absent tibia, Fibular duplication, Broad foot, Hand polydactyly, Patellar ap... OMIM:135750
Infantile Neuroaxonal Dystrophy
Optic atrophy, Hyperactivity, Abnormal autonomic nervous system physiology, Impulsivity, Short at... ORPHA:35069
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/hypoplasia of the femur, Hypoplastic iliac wing, Femoral bowing, Hypoplastic pelvis, Apla... OMIM:228930
Secondary Intestinal Lymphangiectasia
Decreased circulating prealbumin concentration, Secondary hyperaldosteronism, Reduced circulating... ORPHA:90363
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Small proximal tibial epiphyses, Broad distal phalanx of finger, Hypoplastic iliac wing, Microtia... ORPHA:96334
Kaufman Oculocerebrofacial Syndrome
Atrial septal defect, Clinodactyly of the 5th finger, Abnormal pinna morphology, Low-set ears, Co... OMIM:244450
Hemophagocytic Syndrome Associated With An Infection
Hypertriglyceridemia, Increased circulating ferritin concentration, Ataxia, Hyperproteinemia ORPHA:158048
Chylomicron Retention Disease
Retinopathy, Hypocholesterolemia, Steatorrhea ORPHA:71
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Optic atrophy, Atrial septal defect, Transposition of the great arteries, Retinal dysplasia, Reti... OMIM:253800
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypocalcemia, Decreased circulating prealbumin concentration, Hypomagnesemia, Abnormal blood ion ... ORPHA:37042
Leukodystrophy, Hypomyelinating, 5
Delayed brainstem auditory evoked response conduction time, Truncal titubation, Intention tremor,... OMIM:610532
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormality of visual evoked potentials, Broad finger, Abnormal auditory evoked potentials, Optic... OMIM:617523
Cockayne Syndrome Type 1
Optic atrophy, Difficulty walking, Foot joint contracture, Tremor, Absent brainstem auditory resp... ORPHA:90321
Abcd Syndrome
Aganglionic megacolon, Total intestinal aganglionosis, Abnormal auditory evoked potentials, Heari... OMIM:600501
Cntnap2-Related Developmental And Epileptic Encephalopathy
Abnormal temper tantrums, Pes cavus, Preaxial polydactyly, Hyperactivity, EEG with focal spikes, ... ORPHA:163681
19P13.12 Microdeletion Syndrome
Deep plantar creases, Clinodactyly of the 5th finger, Sandal gap, Craniosynostosis, Hyperactivity... ORPHA:254346
Gm2 Gangliosidosis, Ab Variant
Inappropriate behavior, Abnormal fear-induced behavior, Exaggerated startle response, Cognitive i... ORPHA:309246
Juvenile Polyposis Syndrome
Hypoalbuminemia, Clubbing, Hypokalemia OMIM:174900
16P12.1P12.3 Triplication Syndrome
Atrial septal defect, Abnormal tricuspid valve morphology, Nail-biting, Hyperactivity, 2-3 toe sy... ORPHA:485405
Marburg Hemorrhagic Fever
Anorexia, Hypokalemia, Confusion, Hyperamylasemia, Elevated circulating creatine kinase concentra... ORPHA:99826
Multiple Myeloma
Osteopenia, Elevated circulating creatinine concentration, Hypercalcemia, Hyperproteinemia ORPHA:29073
X-Linked Cerebral Adrenoleukodystrophy
Difficulty walking, Inability to walk, Memory impairment, Hyperactivity, Confusion, Short attenti... ORPHA:139396
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hypoalbuminemia, Hyperlipidemia, Pedal edema ORPHA:567546
Adult Krabbe Disease
Pes cavus, Delayed brainstem auditory evoked response conduction time, Broad-based gait, Gait dis... ORPHA:206448
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Aplasia of the 3rd finger, Short hallux, Split hand, Absent tibia, Hand monodactyly, Split foot, ... OMIM:119100
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Disproportionate shortening of the tibia, Retinal dystrophy, Postaxial polysyndactyly of foot, Sh... OMIM:263520
Acrodysostosis 2 With Or Without Hormone Resistance
Short metatarsal, Hyperactivity, Short metacarpal, Short phalanx of finger, Brachydactyly, Advanc... OMIM:614613
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Frequent temper tantrums, Impulsivity, Pulmonic stenosis, Motor stereotypy, Attent... OMIM:620141
Rajab Interstitial Lung Disease With Brain Calcifications 1
Rickets, Osteopenia, Reduced bone mineral density, Hypocalcemia, Unconjugated hyperbilirubinemia,... OMIM:613658
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Laurin-Sandrow Syndrome
Mirror image polydactyly, Tarsal synostosis, Talipes, Abnormal metacarpal morphology, Triphalange... ORPHA:2378
Infantile Krabbe Disease
Optic atrophy, Delayed brainstem auditory evoked response conduction time, Decreased nerve conduc... ORPHA:206436
Dihydropyrimidinase Deficiency
Hyperactivity, Elevated circulating creatine kinase concentration, Elevated circulating thymine c... OMIM:222748
Multiple Epiphyseal Dysplasia, Lowry Type
Fibular hypoplasia, Genu valgum, Rhizomelia, Small epiphyses, Delayed epiphyseal ossification, Di... ORPHA:166016
Anorexia, Optic neuritis, Chorioretinitis, Macular cotton wool spot, Retinal hemorrhage, Pericard... ORPHA:509
Leukodystrophy, Hypomyelinating, 13
Optic atrophy, Delayed brainstem auditory evoked response conduction time, Ataxia, Exaggerated st... OMIM:616881
Intellectual Developmental Disorder, Autosomal Recessive 54
Attention deficit hyperactivity disorder, Exaggerated startle response OMIM:617028
Dyggve-Melchior-Clausen Disease
Abnormal hip bone morphology, Hyperactivity, Abnormal femoral head morphology, Short long bone, L... ORPHA:239
Hypophosphatemic Rickets, X-Linked Recessive
Rickets, Hypophosphatemic rickets, Fibular bowing, Delayed epiphyseal ossification, Enlargement o... OMIM:300554
Biliary, Renal, Neurologic, And Skeletal Syndrome
Inlet ventricular septal defect, Broad thumb, Syndactyly, Elevated circulating creatinine concent... OMIM:619534
Seckel Syndrome 10
Hypertriglyceridemia, Slender long bone, Retinal detachment, Ventricular hypertrophy, Impaired gl... OMIM:617253
Neonatal hypoglycemia, Abnormal circulating C-peptide concentration, Hypoinsulinemia, Retinopathy... ORPHA:552
Omodysplasia 1
Fibular hypoplasia, Limited knee flexion/extension, Rhizomelia, Increased fibular diameter, Ventr... OMIM:258315
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Stillbirth, Patellar hypoplasia, Low-set ears, Absent tibia, Bilateral talipes equinovarus, Mirro... OMIM:119800
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Gait imbalance, Tongue thrusting, Broad-based gait, Hyperactivity, Tremor, Recurrent hand flappin... ORPHA:98794
Arthrogryposis, Distal, Type 2A
Rocker bottom foot, Flexion contracture of toe, Shoulder flexion contracture, Ulnar deviation of ... OMIM:193700
Atelosteogenesis Type Iii
Short tubular bones of the hand, Fibular aplasia, Epiphyseal stippling of the humerus, Vertebral ... ORPHA:56305
Brachydactyly, Type A1, C
Fibular hypoplasia, Short middle phalanx of the 5th finger, Short middle phalanx of the 4th finge... OMIM:615072
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Palmoplantar keratoderma, Hypoalbuminemia, Craniosynostosis ORPHA:79396
Thrombocytopenia-Absent Radius Syndrome
Fibular aplasia, Clinodactyly of the 5th finger, Low-set, posteriorly rotated ears, Aplasia/Hypop... ORPHA:3320
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Hyperactivity, Hypsarrhythmia, Pulmonic stenosis, Absent thumb, Atrial septal defect, EEG with bu... OMIM:619239
X-Linked Creatine Transporter Deficiency
Aganglionic megacolon, Hyperactivity, Athetosis, Dystonia, Ataxia, Abnormal circulating creatine ... ORPHA:52503
Intellectual Developmental Disorder, Autosomal Dominant 45
Neonatal hypoglycemia, Hyperactivity, Recurrent hand flapping, Pulmonic stenosis, Arachnodactyly,... OMIM:617600
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Coxa valga, Hip dislocation OMIM:109120
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Abnormal temper tantrums, Recurrent otitis media, Hyperactivity, Recurrent hand flapping, Short a... ORPHA:449291
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Fibular hypoplasia, Preaxial polydactyly, Femoral bowing, Short ribs, Sho... OMIM:613091
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic atrophy, Pes cavus, Inability to walk, Exaggerated startle response, Absent Achilles reflex... OMIM:609541
Acromesomelic Dysplasia 2B
Fibular aplasia, Fibular hypoplasia, Deformed tarsal bones, Rhizomelia, Short metatarsal, Absent ... OMIM:228900
Dent Disease 1
Rickets, Fibular bowing, Delayed epiphyseal ossification, Enlargement of the ankles, Tibial bowin... OMIM:300009
Primary Sclerosing Cholangitis
Osteopenia, Hypoalbuminemia, Type I diabetes mellitus, Osteoporosis ORPHA:171
Cockayne Syndrome A
Optic atrophy, Square pelvis bone, Decreased nerve conduction velocity, Dementia, Hypoplastic ili... OMIM:216400
Mucopolysaccharidosis Type 3
Chronic otitis media, Mixed hearing impairment, Reduced bone mineral density, Hyperactivity, Sens... ORPHA:581
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Oculogyric crisis, Transient hyperphenylalaninemia, Hyperactivity, Hyperphenylalaninemia, Tremor,... OMIM:612716
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Talipes, Radial deviation o... OMIM:227270
Occipital Horn Syndrome
Large iliac wing, Absent tibia, Dysphagia, Aplasia/hypoplasia of the humerus, Aplastic clavicle, ... ORPHA:198
Mucopolysaccharidosis Type 2
Hyperactivity, Sensorineural hearing impairment, Cardiomyopathy, Impulsivity, Cognitive impairmen... ORPHA:580
Juvenile Polyposis Syndrome
Hypoproteinemia, Low-set ears, Clubbing of fingers ORPHA:2929
Kawasaki Disease
Myocarditis, Elevated circulating C-reactive protein concentration, Abnormal heart valve morpholo... ORPHA:2331
Trisomy 10P
Abnormal foot morphology, Ulnar deviated club hands, EEG with burst suppression, Low voltage EEG,... ORPHA:171929
Combined Oxidative Phosphorylation Deficiency 58
Optic atrophy, Difficulty walking, Hyperalaninemia, Low-set ears, Exaggerated startle response, G... OMIM:620451
Insulin-Like Growth Factor I Deficiency
Osteopenia, Clinodactyly of the 5th finger, Hyperactivity, Sensorineural hearing impairment, Shor... OMIM:608747
Socially inappropriate behavior, Hair-pulling, Hyperactivity, Head-banging, Lingual dystonia, Abn... ORPHA:2388
Immunodeficiency 82 With Systemic Inflammation
Anorexia, Recurrent otitis media, Elevated circulating C-reactive protein concentration, Hypernat... OMIM:619381
Spastic Paraplegia 29, Autosomal Dominant
Hyperactivity, Pes cavus, Sensorineural hearing impairment, Neonatal hyperbilirubinemia OMIM:609727
Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses, Abnormality... ORPHA:79330
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic atrophy, Pes cavus, Difficulty walking, Exaggerated startle response, Hyporeflexia of lower... ORPHA:320406
Tangier Disease
Hypertriglyceridemia, Facial diplegia, Coronary artery stenosis, Left ventricular hypertrophy, Hy... ORPHA:31150
Tip-toe gait, Hypoplastic helices, EEG with spike-wave complexes, Hyperactivity, Tremor, Short at... ORPHA:2203
Acromelic Frontonasal Dysostosis
Patellar hypoplasia, Optic nerve hypoplasia, Low-set ears, Remnants of the hyaloid vascular syste... OMIM:603671
Microphthalmia With Limb Anomalies
Metatarsal synostosis, Fibular hypoplasia, 2-3 toe cutaneous syndactyly, Pes valgus, Sandal gap, ... OMIM:206920
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Abnormal fibula morphology, Aplasia/Hypoplasia of the thumb, Synostosis of carpal bones, Aplasia/... ORPHA:988
Plaa-Associated Neurodevelopmental Disorder
Optic atrophy, Rocker bottom foot, Low-set, posteriorly rotated ears, Hypsarrhythmia, Hyperextens... ORPHA:521426
Glycine Encephalopathy With Normal Serum Glycine
Optic atrophy, Genu recurvatum, Low-set ears, Exaggerated startle response, Hand clenching, Hip c... OMIM:617301
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Glenoid fossa hypoplasia, Narrow iliac wing, Bowing of the long bones, Flared ra... ORPHA:85170
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Inability to walk, Optic nerve hypoplasia, Short attention span, Exaggerated startle response, Ma... OMIM:617864
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Split hand, Absent tibia, Hand monodactyly, Bifid femur, Foot monodactyly OMIM:228250
Neurodegeneration With Brain Iron Accumulation 2B
Optic atrophy, Hyperactivity, Dysdiadochokinesis, Short attention span, Impulsivity, Intention tr... OMIM:610217
Stiff Person Spectrum Disorder
Diabetes mellitus, Difficulty walking, Exaggerated startle response, Falls ORPHA:3198
Fibrochondrogenesis 1
Narrow greater sciatic notch, Stillbirth, Fibular hypoplasia, Rhizomelia, Clinodactyly of the 5th... OMIM:228520
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Progressive language deterioration, Ataxia, Motor stereotypy, Attention deficit hy... OMIM:610042
Atelosteogenesis, Type I
Tibial bowing, Clubbing, Short metacarpal, Short humerus, Fibular aplasia, Short finger, Rhizomel... OMIM:108720
Acromesomelic Dysplasia 3
Hypoplasia of the ulna, Fibular aplasia, Short finger, Radial deviation of finger, Tarsal synosto... OMIM:609441
Cockayne Syndrome B
Optic atrophy, Square pelvis bone, Decreased nerve conduction velocity, Hypoplastic iliac wing, S... OMIM:133540
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Hypomagnesemia, Self-biting, Hypokalemia OMIM:618314
Neurodegeneration With Brain Iron Accumulation 1
Optic atrophy, Obsessive-compulsive trait, Abnormal foot morphology, Akinesia, Dementia, Hyperact... OMIM:234200
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hypoplasia of the ulna, Fibular hypoplasia, Irregular epiphyses, Early ossification of capital fe... OMIM:208500
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Hypoplasia of the ulna, Fibular hypoplasia, Abnormal tibia morphology, Synostosis of carpal bones... ORPHA:2634
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Optic atrophy, Rocker bottom foot, Low-set ears, Exaggerated startle response, Cognitive impairme... OMIM:617527
Asparagine Synthetase Deficiency
Long foot, Hypoasparaginemia, Hypsarrhythmia, Optic nerve hypoplasia, Tremor, Exaggerated startle... OMIM:615574
Spastic Tetraplegia And Axial Hypotonia, Progressive
Low-set ears, Exaggerated startle response, Posteriorly rotated ears, Ataxia, Ankle clonus, Overl... OMIM:618598
Gm1 Gangliosidosis Type 1
Broad long bone diaphyses, Short long bone, Low-set ears, Broad metacarpals, Flared iliac wing, E... ORPHA:79255
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Agitation, Truncal titubation, Clinodactyly of the 5th finger, Tremor, Exaggerated startle respon... OMIM:618056
Legius Syndrome
Polydactyly, Xanthelasma, Clinodactyly of the 5th finger, Hyperactivity, Short attention span, Co... ORPHA:137605
Charge Syndrome
Mixed hearing impairment, Sensorineural hearing impairment, Microtia, Absent tibia, Pulmonic sten... OMIM:214800
Eiken Syndrome
Fibular hypoplasia, Delayed epiphyseal ossification, Delayed ossification of carpal bones, Flat a... OMIM:600002
Tropical Endomyocardial Fibrosis
Left atrial enlargement, Endocardial fibrosis, Right ventricular cardiomyopathy, Pedal edema, Res... ORPHA:75565
Sandhoff Disease
Orthostatic hypotension, Progressive psychomotor deterioration, Exaggerated startle response, Ata... OMIM:268800
Developmental And Epileptic Encephalopathy 49
Optic atrophy, Hyperactivity, Exaggerated startle response, Macrotia, EEG abnormality OMIM:617281
Tay-Sachs Disease
Psychomotor deterioration, Cherry red spot of the macula, Exaggerated startle response, Dementia OMIM:272800
Hydrolethalus Syndrome 1
Stillbirth, Upper limb undergrowth, Abnormal pinna morphology, Postaxial hand polydactyly, Low-se... OMIM:236680
Acro-Renal-Mandibular Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Low-set, posteriorly rotated ears, Finger synda... ORPHA:958
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Oculogyric crisis, Tongue thrusting, Athetosis, Blepharospasm, Limb dystonia, Exagge... OMIM:608643
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Pes cavus, Decreased nerve conduction velocity, Aganglionic megacolon, Torticollis, Short-segment... OMIM:609136
Thrombocytopenia-Absent Radius Syndrome
Femoral bowing, Broad thumb, Bilateral radial aplasia, Absent thumb, Aplasia/hypoplasia of the hu... OMIM:274000
Osteopenia, Hyperinsulinemia, Abnormal pinna morphology, Photoreceptor layer loss on macular OCT,... ORPHA:79318
Omodysplasia 2
Fibular hypoplasia, Recurrent otitis media, Clinodactyly of the 5th finger, Dislocated radial hea... OMIM:164745
Cranioectodermal Dysplasia 1
Bicuspid aortic valve, Fibular hypoplasia, Radial deviation of finger, Rhizomelia, Protruding ear... OMIM:218330
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Broad-based gait, Abnormal pinna morphology, Short attention span, Exaggerated startle response, ... ORPHA:438216
Ophthalmomandibulomelic Dysplasia
Fibular hypoplasia, Ulnar deviated club hands, Mesomelia, Radial bowing, Lateral humeral condyle ... OMIM:164900
Campomelic Dysplasia
Absent sternal ossification, Dislocated radial head, Hypoplastic iliac wing, Femoral bowing, Shor... OMIM:114290
Campomelic Dysplasia
Fibular hypoplasia, 11 pairs of ribs, Poorly ossified cervical vertebrae, Tibial bowing, Femoral ... ORPHA:140
Acrofacial Dysostosis, Rodríguez Type
Fibular hypoplasia, Finger syndactyly, Microtia, Abnormal pelvic girdle bone morphology, Finger a... ORPHA:1788
Hyperekplexia-Epilepsy Syndrome
EEG with temporal focal spikes, Exaggerated startle response ORPHA:163985
Early Infantile Epileptic Encephalopathy
Broad finger, Short finger, EEG with spike-wave complexes, Hyperactivity, Broad phalanx of the to... ORPHA:1934
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Hypoalbuminemia, Macrotia OMIM:614748
Hyperthyroidism, Nonautoimmune
Increased circulating thyroglobulin concentration, Hyperactivity OMIM:609152
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Hearing impairment, Inability to walk, Exaggerated startle response OMIM:620114
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Patent foramen ovale, Tremor, Exaggerated startle response, Hearing impairment, Atrial septal defect OMIM:620327
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Osteopenia, Inability to walk, Broad-based gait, Patent foramen ovale, Stereotypical hand wringin... ORPHA:438213
Stiff-Person Syndrome
Diabetes mellitus, Opisthotonus, Exaggerated startle response OMIM:184850
Abnormal metaphysis morphology, Fibular aplasia, Aplasia of the ulna, Absent radius, Absent hand,... ORPHA:931
Acrorenal-Mandibular Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Split hand, Rudimentary to absent tibiae, Missi... OMIM:200980
Sandhoff Disease, Infantile Form
Mitral valve prolapse, Cherry red spot of the macula, Exaggerated startle response ORPHA:309155
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Tibial Hemimelia
Absent tibia OMIM:275220
Acromelic Frontonasal Dysplasia
Aplasia/Hypoplasia of the tibia, Patellar hypoplasia, Preaxial foot polydactyly, Talipes equinovarus ORPHA:1827
Otopalatodigital Syndrome, Type Ii
Rocker bottom foot, Femoral bowing, Short ribs, Short metacarpal, Tibial bowing, Broad thumb, Pos... OMIM:304120
Osteopathia Striata With Cranial Sclerosis
Fibular aplasia, Fibular hypoplasia, Flexion contracture of toe, Clinodactyly of the 5th finger, ... OMIM:300373
Osteofibrous Dysplasia, Susceptibility To
Fibular hypoplasia, Pseudoarthrosis OMIM:607278
Gm2-Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response, Dementia OMIM:272750
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplasia/hypoplasia of the femur, Carpal bone aplasia, Aplasia/Hypoplasia of the phalanges of the ... OMIM:276820
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response, Short humerus, Dysphagia, Short femur, EEG with generalized slow ac... OMIM:618367
Kinsship Syndrome
Polydactyly, Osteopenia, Fibular hypoplasia, Dislocated radial head, Low-set ears, Micrognathia, ... OMIM:619297
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Short finger, Clinodactyly of the 5th finger, Broad toe, Small earlobe, Microtia, Low-set ears, S... OMIM:619522
Hyperactivity, Hyperhistidinemia ORPHA:2157
Orofaciodigital Syndrome Type 4
Absent crus of helix, Finger syndactyly, Microtia, third degree, Postaxial hand polydactyly, Spli... ORPHA:2753
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Hyperekplexia 1
Exaggerated startle response, Hip dislocation OMIM:149400
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Schneckenbecken Dysplasia
Abnormal metaphysis morphology, Diaphyseal undertubulation, Fibular hypoplasia, Increased fibular... ORPHA:3144
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Fibular hypoplasia, Hip subluxation, Mixed hearing impairment, Low-set, posteriorly rotated ears,... ORPHA:444077


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 Aak1

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 Aak1.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A large scale hearing loss screen reveals an extensive unexplored genetic landscape for auditory dysfunction. Nature communications (October 2017) Aak1tm1b(EUCOMM)Hmgu PMC5638796

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Aak1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Aak1tm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice
Aak1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

The IMPC Newsletter

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

Subscribe to newsletter