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Gene: Aak1 MGI:1098687

Gene Summary

Name:

AP2 associated kinase 1

Synonyms:

D6Ertd245e, 5530400K14Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
hyperactivity	Aak1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	3.54×10^-05
decreased circulating serum albumin level	Aak1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	4.81×10^-05
abnormal bone structure	Aak1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	3.80×10^-10
short tibia	Aak1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	4.70×10^-14
increased circulating aspartate transaminase level	Aak1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	3.45×10^-15
decreased startle reflex	Aak1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	5.19×10^-07
abnormal heart left ventricle morphology	Aak1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	3.41×10^-05
increased circulating alanine transaminase level	Aak1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	5.01×10^-05
preweaning lethality, incomplete penetrance	Aak1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	0.00
decreased circulating total protein level	Aak1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	7.20×10^-07
increased prepulse inhibition	Aak1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	3.04×10^-06
abnormal auditory brainstem response	Aak1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	4.27×10^-16
increased circulating alkaline phosphatase level	Aak1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	3.27×10^-11
impaired glucose tolerance	Aak1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	8.41×10^-05
abnormal contextual conditioning behavior	Aak1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	3.39×10^-05
decreased circulating cholesterol level	Aak1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	5.63×10^-05
decreased grip strength	Aak1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	4.91×10^-06
increased vertical activity	Aak1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	3.21×10^-13
abnormal retina outer nuclear layer morphology	Aak1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	6.76×10^-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.

X-ray

XRay Images Whole Body Dorso Ventral

16 Images

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X-ray

XRay Images Whole Body Lateral Orientation

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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.

Human diseases associated with Aak1 (0 diseases)
Human diseases predicted to be associated with Aak1 (385 diseases)

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	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
Alg6-Cdg	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
Analbuminemia	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
Slc35A2-Cdg	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
Alg1-Cdg	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
Abetalipoproteinemia	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
Alg12-Cdg	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
Leishmaniasis	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
Mpi-Cdg	Hypoalbuminemia, Hyperinsulinemic hypoglycemia	ORPHA:79319
Acheiropody	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
Phenylketonuria	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
Leptospirosis	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
Mody	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
Choreoacanthocytosis	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
Mogs-Cdg	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
Hyperlysinemia	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
Pmm2-Cdg	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
Acheiropodia	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
Histidinemia	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

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for 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)	Aak1^{tm1b(EUCOMM)Hmgu}	PMC5638796

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MGI Allele	Allele Type	Produced
Aak1^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Aak1^{tm1b(EUCOMM)Hmgu}	Reporter-tagged deletion allele (with selection cassette)	Mice
Aak1^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Aak1 MGI:1098687

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

Human diseases caused by Aak1 mutations

Histopathology

IMPC related publications

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Access Data Release 21.0 Data