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

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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

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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 (380 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	Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperactivit...	ORPHA:247585
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Decreased motor nerve conduction velocity, Ataxia, Steppage gait, Hypoalbuminemia, Hypercholester...	OMIM:607250
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Dystonia, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Mental deterioratio...	OMIM:208920
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Ataxia, Steppage gait, Hypoalbuminemia, Hypercholesterolemia, Distal lower limb muscle weakness, ...	ORPHA:94124
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:620058
Congenital Disorder Of Glycosylation, Type Ij	Micrognathia, Aggressive behavior, Tremor, Hypsarrhythmia, Clinodactyly of the 5th finger, Hypopr...	OMIM:608093
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Increased circulating creatine kinase MM isoform, Cardiomyopathy, Hypoalbuminemia, Hypermethionin...	OMIM:613752
Alg6-Cdg	Ataxia, Decreased LDL cholesterol concentration, Shortening of all distal phalanges of the finger...	ORPHA:79320
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Clinodactyly of the 5th finger, Hypoproteinemia, Chorioretinal coloboma	ORPHA:1116
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia, Craniosynostosis, Cardiomegaly	ORPHA:88643
Immunodeficiency 43	Hypoplasia of the ulna, Radial bowing, Decreased circulating beta-2-microglobulin level, Hypoalbu...	OMIM:241600
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Dystonia, Ataxia, Elevated circulating creatine kinase concentration, Elevated circulating alpha-...	ORPHA:64753
Analbuminemia	Osteoporosis, Elevated circulating transferrin concentration, Increased LDL cholesterol concentra...	OMIM:616000
Lymphangiectasia, Intestinal	Stillbirth, Neonatal hypoproteinemia, Pedal edema	OMIM:152800
Diarrhea 13	Recurrent hypoglycemia, Hypoalbuminemia	OMIM:620357
Enterokinase Deficiency	Hypoproteinemia	OMIM:226200
Cholestasis, Progressive Familial Intrahepatic, 10	Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho...	OMIM:619868
Fibular Hemimelia	Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol...	ORPHA:93323
Diarrhea 7, Protein-Losing Enteropathy Type	Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia	OMIM:615863
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ...	OMIM:200700
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Sensorineural hearing impairment, Hypoproteinemia	OMIM:221400
Nephrotic Syndrome, Type 2	Hyperlipidemia, Hypoalbuminemia	OMIM:600995
Ataxia-Oculomotor Apraxia 4	Ataxia, Elevated circulating alpha-fetoprotein concentration, Hypoalbuminemia, Cognitive impairme...	OMIM:616267
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Osteopenia, Intention tremor, Erlenmeyer flask deformity of the femurs, Hypocholesterolemia	OMIM:610539
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Increased VL...	OMIM:267700
Galloway-Mowat Syndrome 6	Clinodactyly of the 5th finger, Abnormal repetitive mannerisms, Hypoalbuminemia, Paroxysmal burst...	OMIM:618347
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ...	OMIM:118651
Slc35A2-Cdg	Osteopenia, Increased circulating thyroglobulin level, Camptodactyly of finger, Craniosynostosis,...	ORPHA:356961
Nephrotic Syndrome, Type 1	Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia	OMIM:256300
Primary Membranoproliferative Glomerulonephritis	Drusen, Hypoalbuminemia	ORPHA:54370
Nephrotic Syndrome, Type 15	Hypoalbuminemia	OMIM:617609
Chylomicron Retention Disease	Decreased LDL cholesterol concentration, Hypoalbuminemia, Steatorrhea, Hypotriglyceridemia, Hypoc...	OMIM:246700
Ménétrier Disease	Hypoproteinemia, Hypoalbuminemia, Anorexia	ORPHA:2494
Syndactyly Type 4	1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ...	ORPHA:93405
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Ventricular septal defect, Elevated circulating creatine kinase concentration, Increased circulat...	ORPHA:26793
Coenzyme Q10 Deficiency, Primary, 3	Hypoalbuminemia	OMIM:614652
Gastritis, Familial Giant Hypertrophic	Hypoproteinemia	OMIM:137280
Potocki-Lupski Syndrome	Hyperactivity, Oral-pharyngeal dysphagia, Micrognathia, Patent foramen ovale, EEG abnormality, Hy...	OMIM:610883
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida...	OMIM:201250
Refractory Celiac Disease	Hypomagnesemia, Osteoporosis, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia	ORPHA:398063
Congenital Analbuminemia	Hyperlipidemia, Pedal edema, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hyp...	ORPHA:86816
Focal Segmental Glomerulosclerosis 6	Hypoalbuminemia	OMIM:614131
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Hypoproteinemia	OMIM:207731
Hyperlysinemia, Type I	Short attention span, Hyperactivity, Hyperlysinemia, Cognitive impairment	OMIM:238700
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Hyperactivity, Ataxia, Aggressive behavior, Tremor, Limb dystonia, Bilateral coxa valga, Hypertro...	OMIM:620270
Osebold-Remondini Syndrome	Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Tarsal synostosis, Type A ...	OMIM:112910
Nephrotic Syndrome, Type 9	Hypoalbuminemia	OMIM:615573
Erythroderma, Lethal Congenital	Hypoalbuminemia	OMIM:227090
Nephrotic Syndrome, Type 11	Arachnodactyly, Ventricular septal defect, Micrognathia, Partial duplication of thumb phalanx, Di...	OMIM:616730
Johanson-Blizzard Syndrome	Diabetes mellitus, Dextrocardia, Sensorineural hearing impairment, Abnormal cardiac septum morpho...	ORPHA:2315
Lethal Faciocardiomelic Dysplasia	Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ...	ORPHA:1972
Galloway-Mowat Syndrome 8	Hypoalbuminemia, Hearing impairment	OMIM:618349
Nephrotic Syndrome, Type 7	Hypoalbuminemia	OMIM:615008
Léri-Weill Dyschondrosteosis	Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib...	ORPHA:240
Acromesomelic Dysplasia, Grebe Type	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr...	ORPHA:2098
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hyperactivity, Hypertriglyceridemia, Ataxia, Tremor, Dystonia, Mental deterioration	OMIM:615924
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hypoproteinemia, Clubbing of fingers, Clubbing, Hypoalbuminemia	OMIM:226300
Mohr-Tranebjaerg Syndrome	Absent brainstem auditory responses, Generalized dystonia, Dystonia, Tremor, Inability to walk, S...	ORPHA:52368
Peroxisome Biogenesis Disorder 3B	Ataxia, Retinal dystrophy, Sensorineural hearing impairment, Elevated circulating phytanic acid c...	OMIM:266510
Leri-Weill Dyschondrosteosis	Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul...	OMIM:127300
Hyperprolinemia, Type I	Hyperactivity, Ataxia, Aggressive behavior, Hyperprolinemia, EEG abnormality, Abnormal repetitive...	OMIM:239500
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short...	OMIM:607778
Triokinase And Fmn Cyclase Deficiency Syndrome	Broad-based gait, Dilated cardiomyopathy, Hypoalbuminemia	OMIM:618805
Focal Segmental Glomerulosclerosis 1	Hyperlipidemia, Hypoalbuminemia	OMIM:603278
Nephrotic Syndrome, Type 22	Hypoproteinemia	OMIM:619155
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hypertriglyceridemia, Ataxia, Increased circulating ferritin concentration, Hypoalb...	OMIM:603553
Immunodeficiency 27A	Hypoalbuminemia, Anorexia, Hypoplasia of the femoral head	OMIM:209950
Fibronectin Glomerulopathy	Hypoalbuminemia, Pedal edema	ORPHA:84090
Maternal Uniparental Disomy Of Chromosome 4	Calf muscle pseudohypertrophy, Abetalipoproteinemia, Elevated circulating creatine kinase concent...	ORPHA:96180
Squalene Synthase Deficiency	Posteriorly rotated ears, Optic nerve hypoplasia, Bicuspid aortic valve, Increased circulating fa...	OMIM:618156
Alg1-Cdg	Cardiomyopathy, Hypoalbuminemia, Abnormal heart morphology	ORPHA:79327
Reni Syndrome	Hypertriglyceridemia, Ataxia, Hypoglycemia, Sensorineural hearing impairment, Hypoalbuminemia, Me...	OMIM:617575
Chédiak-Higashi Syndrome	Hyponatremia, Abnormality of retinal pigmentation, Hypertriglyceridemia, Ataxia, Decreased nerve ...	ORPHA:167
Primary Intestinal Lymphangiectasia	Pericardial effusion, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Hypoproteinemia	ORPHA:90362
Congenital Disorder Of Glycosylation, Type Ig	Retinal detachment, Short humerus, Short femur, Abnormal pinna morphology, Rhizomelia, Sandal gap...	OMIM:607143
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypoglycemic seizures, Attention deficit hyperact...	OMIM:620211
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Ventricular septal defect, Micrognathia, Postaxial hand polydactyly, Hypocalcemia, Low-set ears, ...	OMIM:235255
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Decreased LDL cholesterol ...	OMIM:615558
Congenital Disorder Of Glycosylation, Type Ih	Elevated circulating creatinine concentration, Perimembranous ventricular septal defect, Hypoalbu...	OMIM:608104
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	Periostosis, Hyperostosis, Clubbing, Hypoalbuminemia	OMIM:614441
Congenital Lethal Erythroderma	Hypoalbuminemia	ORPHA:1954
Stxbp1-Related Encephalopathy	Hyperactivity, Ataxia, EEG with abnormally slow frequencies, Tremor, Inability to walk, Multifoca...	ORPHA:599373
Dengue Fever	Hypoproteinemia	ORPHA:99828
Rajab Interstitial Lung Disease With Brain Calcifications 2	Arachnodactyly, Hypertriglyceridemia, Hypoalbuminemia	OMIM:619013
S-Adenosylhomocysteine Hydrolase Deficiency	Pes planus, Short attention span, Elevated circulating creatine kinase concentration, Abnormal ci...	ORPHA:88618
Charcot-Marie-Tooth Disease, Type 4B1	Decreased motor nerve conduction velocity, Talipes equinovarus, Facial palsy, Abnormal auditory e...	OMIM:601382
Congenital Enterocyte Heparan Sulfate Deficiency	Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy...	ORPHA:103910
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Short femoral neck...	OMIM:249700
Fraxe Intellectual Disability	Hyperactivity, Impulsivity, Aggressive behavior, Prominent ear helix, Stereotypical body rocking,...	ORPHA:100973
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Short palm, Atrial septal defect, Hyperactivity, Pericardial lymphangiectasia, Ventricular septal...	OMIM:235510
Combined Oxidative Phosphorylation Deficiency 37	Hypoglycemia, Progressive neurologic deterioration, Chorioretinal hyperpigmentation, Sensorineura...	OMIM:618329
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Ventricular septal defect, Micrognathia, Postaxial hand polydactyly, Hypocalcemia, Low-set ears, ...	ORPHA:1655
Coronary Artery Disease, Autosomal Dominant 2	Hypertriglyceridemia, Impaired glucose tolerance, Osteoporosis, Increased LDL cholesterol concent...	OMIM:610947
Auditory Neuropathy, Autosomal Dominant 1	Sensorineural hearing impairment, Abnormal auditory evoked potentials	OMIM:609129
Abetalipoproteinemia	Osteopenia, Decreased HDL cholesterol concentration, Cardiomegaly, Dysmetria, Gait ataxia, Steppa...	ORPHA:14
Autoinflammation With Infantile Enterocolitis	Increased circulating ferritin concentration, Hypoalbuminemia, Elevated circulating C-reactive pr...	OMIM:616050
Wolcott-Rallison Syndrome	Hyponatremia, Metaphyseal dysplasia, Neonatal insulin-dependent diabetes mellitus, Hyperammonemia...	ORPHA:1667
Deafness, Autosomal Recessive 9	Absent brainstem auditory responses, Sensorineural hearing impairment	OMIM:601071
Alg12-Cdg	Hyponatremia, Retinal detachment, Abnormal pinna morphology, Sandal gap, Proximal placement of th...	ORPHA:79324
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness	Absent brainstem auditory responses, Facial palsy, Ankle flexion contracture, Sensorineural heari...	OMIM:617519
Deafness, Autosomal Recessive 104	Absent brainstem auditory responses, Prelingual sensorineural hearing impairment	OMIM:616515
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Cardiomyopathy, Dilated cardiomyopathy, Hypoproteinemia, Elevated circulating creatine kinase con...	OMIM:615895
Nephrotic Syndrome, Type 3	Hypoalbuminemia	OMIM:610725
Congenital Disorder Of Glycosylation, Type Ia	Osteopenia, Pericarditis, Ataxia, Tremor, Pericardial effusion, Macrotia, Dysmetria, Steatorrhea,...	OMIM:212065
Nephrotic Syndrome, Type 6	Hypoalbuminemia	OMIM:614196
Leishmaniasis	Hypoalbuminemia, Anorexia	ORPHA:507
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Postural tremor, Action tremor, Unsteady gait, Gait ataxia, Hypoalbuminemia, Dysphagia, Mental de...	OMIM:254900
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	EEG abnormality, Ventricular septal defect, Overriding aorta, Hypoalbuminemia	OMIM:617021
Aicardi-Goutieres Syndrome 9	Pericarditis, Pericardial effusion, Chorioretinal atrophy, Optic atrophy, Osteoporosis, Hypoalbum...	OMIM:619487
Eosinophilic Gastroenteritis	Steatorrhea, Hypoalbuminemia, Elevated circulating C-reactive protein concentration, Dysphagia	ORPHA:2070
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Se...	OMIM:242150
Optic Atrophy 11	Hyperactivity, Decreased sensory nerve conduction velocity, Ataxia, Optic nerve hypoplasia, Gait ...	OMIM:617302
Mpi-Cdg	Hypoalbuminemia, Hyperinsulinemic hypoglycemia	ORPHA:79319
Autosomal Dominant Optic Atrophy Plus Syndrome	Absent brainstem auditory responses, Diabetes mellitus, Ataxia, Sensorineural hearing impairment,...	ORPHA:1215
Landau-Kleffner Syndrome	Interictal EEG abnormality, Short attention span, Hyperactivity, EEG with frontal focal spikes, I...	ORPHA:98818
Acheiropody	Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t...	OMIM:200500
Glycine Encephalopathy 1	Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Hyperglycinemia	OMIM:605899
Pancreatic insufficiency, combined exocrine	Hypoproteinemia	OMIM:260450
Mucopolysaccharidosis-Plus Syndrome	Inability to walk, Metaphyseal widening, Optic atrophy, Clubbing, Hypertrophic cardiomyopathy, Ch...	OMIM:617303
Neurodegeneration And Seizures Due To Copper Transport Defect	Short femur, Cardiomegaly, Abnormal circulating ceruloplasmin concentration, Talipes equinovarus,...	OMIM:620306
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ...	OMIM:612447
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin	OMIM:618528
Insulin-Resistance Syndrome Type B	Abnormal circulating fatty-acid concentration, Insulin resistance, Fasting hyperinsulinemia, Insu...	ORPHA:2298
Orofaciodigital Syndrome Type 10	Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor...	ORPHA:2756
Ravine Syndrome	Abnormal auditory evoked potentials, Ataxia, Anorexia	ORPHA:99852
Smith-Magenis Syndrome	Retinal detachment, Hyperactivity, Hypertriglyceridemia, Pes planus, Brachydactyly, Self hugging,...	OMIM:182290
Orofaciodigital Syndrome Viii	Syndactyly, Short tibia, Polydactyly	OMIM:300484
Acrofacial Dysostosis Syndrome Of Rodriguez	11 pairs of ribs, Posteriorly rotated ears, Overlapping toe, Micrognathia, Fibular hypoplasia, Ta...	OMIM:201170
Chronic Bilirubin Encephalopathy	Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hypoalbuminemia, Hypernatr...	ORPHA:529808
Acute Bilirubin Encephalopathy	Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hypoalbuminemia, Hypernatr...	ORPHA:529799
Stuve-Wiedemann Syndrome 1	Micrognathia, Femoral bowing, Tibial bowing, Knee flexion contracture, Short tibia, Short phalanx...	OMIM:601559
Nephrotic Syndrome, Type 8	Sensorineural hearing impairment, Hypoalbuminemia	OMIM:615244
Wilson Disease	Limb dystonia, Decreased circulating ceruloplasmin concentration, Hypouricemia, Osteomalacia, Dys...	OMIM:277900
Al Amyloidosis	Increased circulating NT-proBNP concentration, Abnormal cardiac ventricle morphology, Abnormal he...	ORPHA:85443
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Hyperactivity, Ataxia, Aggressive behavior, Tremor, Choreoathetosis, Transient hyperphenylalanine...	OMIM:612716
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid...	ORPHA:567548
Developmental And Epileptic Encephalopathy 43	Hyperactivity, Ataxia, Impulsivity, Hypsarrhythmia, Attention deficit hyperactivity disorder	OMIM:617113
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased...	ORPHA:93322
Optic Atrophy 8	Abnormal auditory evoked potentials, Sensorineural hearing impairment, Optic atrophy, Prolonged s...	OMIM:616648
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Ataxia, Abnormal auditory evoked potentials, Optic atrophy, Gait disturbance, Progressive sensori...	OMIM:125250
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia	OMIM:246570
Late-Infantile/Juvenile Krabbe Disease	Prolonged brainstem auditory evoked potentials, Ataxia, Decreased nerve conduction velocity, Trem...	ORPHA:206443
Lymphoproliferative Syndrome, X-Linked, 1	Hypoalbuminemia, Elevated circulating C-reactive protein concentration	OMIM:308240
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type	Short tibia, Hypoplasia of the radius, Pseudoarthrosis	OMIM:156230
Congenital Disorder Of Glycosylation, Type Ib	Hyperinsulinemic hypoglycemia, Hypoalbuminemia, Steatorrhea	OMIM:602579
Eiken Syndrome	Abnormal trabecular bone morphology, Absence of the sacrum, Abnormal acetabulum morphology, Epiph...	ORPHA:79106
Omenn Syndrome	Hypoproteinemia	OMIM:603554
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati...	ORPHA:247598
Autosomal Recessive Spastic Paraplegia Type 44	Ataxia, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Difficulty walking...	ORPHA:320401
Endove Syndrome, Limb-Only Type	Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti...	OMIM:619217
Lennox-Gastaut Syndrome	Hyperactivity, Aggressive behavior, EEG abnormality, Falls, EEG with focal sharp slow waves, Ment...	ORPHA:2382
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Short attention span, Hyperactivity, Hypoglycemia, Micrognathia, Congenital sensorineural hearing...	ORPHA:73272
Mesomelic Dysplasia, Savarirayan Type	Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Mesomelia, Short tibia, Dislocat...	OMIM:605274
Severe Neurodegenerative Syndrome With Lipodystrophy	Hyperactivity, Hypertriglyceridemia, Ataxia, Tremor, Insulin resistance, Progressive psychomotor ...	ORPHA:363400
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Hypoglycemia, Elevated circulating creatine kinase concentration, Hypoalbuminemia, Neonatal death...	OMIM:619055
Microcephaly-Micromelia Syndrome	Craniosynostosis, Micrognathia, Micromelia, Absent thumb, Absent radius, Humeroradial synostosis,...	OMIM:251230
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis	Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hypocholesterol...	OMIM:616834
Myopathy With Extrapyramidal Signs	Extremely elevated creatine kinase, Hyperactivity, Ataxia, Elevated circulating creatine kinase c...	OMIM:615673
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Hypoglycemia, Conjugated hyperbilirubinemia, Sensorineural hearing impairment, Hyperammonemia, De...	OMIM:617093
Pierson Syndrome	Retinal detachment, Remnants of the hyaloid vascular system, Retinal hemorrhage, Macular hypoplas...	OMIM:609049
Macrophage Activation Syndrome	Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia, Elevated cir...	ORPHA:158061
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Abnormal cardiomyocyte morphology, Dilated cardiomyopathy, Hypoalbuminemia	ORPHA:367
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Optic disc pallor, Ataxia, Macular coloboma, Macular atrophy, Abnormal auditory evoked potentials...	OMIM:619260
Immunodeficiency 32B	Hypoalbuminemia	OMIM:226990
Pancreatic Lipase Deficiency	Steatorrhea, Hypocholesterolemia	OMIM:614338
Cerebrotendinous Xanthomatosis	Osteopenia, Abnormal tibia morphology, Abnormal finger morphology, Abnormal femur morphology, Pro...	ORPHA:909
Galloway-Mowat Syndrome 1	Dystonia, Ataxia, Micrognathia, Optic atrophy, Hypoalbuminemia, Talipes equinovarus, Low-set ears...	OMIM:251300
Hepatoportal Sclerosis	Cognitive impairment, Hypoalbuminemia, Hyperbilirubinemia	ORPHA:64743
Phenylketonuria	Maternal hyperphenylalaninemia, Hyperactivity, Aggressive behavior, Compulsive behaviors, Hyperph...	OMIM:261600
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Absent brainstem auditory responses, Head titubation, Increased circulating ferritin concentratio...	ORPHA:3240
Succinic Semialdehyde Dehydrogenase Deficiency	Hyperactivity, Ataxia, Aggressive behavior, Self-injurious behavior, EEG abnormality, Elevated ci...	OMIM:271980
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type	Continuous spike and waves during slow sleep, Hyperactivity, Impulsivity, Attention deficit hyper...	OMIM:301008
Microphthalmia With Limb Anomalies	Micrognathia, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of...	ORPHA:1106
Congenital Enterovirus Infection	Pericardial effusion, Myocarditis, Hyperammonemia, Cardiomyopathy, Hypoalbuminemia	ORPHA:292
Cln5 Disease	Hyperactivity, Ataxia, EEG with spike-wave complexes, Aggressive behavior, Tremor, Inability to w...	ORPHA:228360
Liver Disease, Severe Congenital	Hyponatremia, Short attention span, Ventricular septal defect, Left atrial enlargement, Elevated ...	OMIM:619991
Charcot-Marie-Tooth Disease Type 1F	Restless legs, Absent brainstem auditory responses, Flexion contracture of finger, Optic nerve hy...	ORPHA:101085
Smith-Lemli-Opitz Syndrome	Micromelia, Micrognathia, Proximal placement of thumb, 2-3 toe cutaneous syndactyly, Talipes calc...	OMIM:270400
Familial Hemophagocytic Lymphohistiocytosis	Increased circulating ferritin concentration, Sensorineural hearing impairment, Hypertriglyceride...	ORPHA:540
Orofaciodigital Syndrome Iv	Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydactyly, Low-set ...	OMIM:258860
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy...	OMIM:609945
Liver Failure, Infantile, Transient	Hypoalbuminemia, Hyperbilirubinemia	OMIM:613070
Bent Bone Dysplasia Syndrome 2	Osteopenia, Atrial septal defect, Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femor...	OMIM:620076
Refractory Anemia With Excess Blasts	Abnormal circulating protein concentration, Abnormal circulating albumin concentration, Retinal h...	ORPHA:86839
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Neonatal death, Hypertrophic cardiomyopathy, Micrognathia, Hypocholesterolemia	OMIM:618810
Genetic Steroid-Resistant Nephrotic Syndrome	Hypoalbuminemia	ORPHA:656
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Orofaciodigital Syndrome Ix	Toe syndactyly, Hand polydactyly, Retinal coloboma, Camptodactyly, Short tibia	OMIM:258865
Xfe Progeroid Syndrome	Attenuation of retinal blood vessels, Optic atrophy, Hypoalbuminemia, Pes cavus, Hearing impairment	OMIM:610965
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Decreased serum iron, Dilated cardiomyopathy, Dysphagia, Decreased serum zinc, Hypoalbuminemia, D...	ORPHA:89842
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Multiple muscular ventricular septal defects, Palmoplantar keratoderma, Hypoalbuminemia, Pulmonic...	OMIM:615508
Avian Influenza	Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevated circulating C-react...	ORPHA:454836
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Hyperactivity, Tremor, Inability to walk, Self-injurious behavior, EEG abnormality, Low-set ears,...	OMIM:618718
Charcot-Marie-Tooth Disease, Type 4D	Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Sensorineural hearing i...	OMIM:601455
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Micrognathia, Pericardial effusion, Hypoalbuminemia, Hypocalc...	OMIM:618183
Bacterial Toxic-Shock Syndrome	Elevated circulating creatine kinase concentration, Confusion, Abnormality of the lower limb, Myo...	ORPHA:36234
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros...	ORPHA:85188
Trichohepatoenteric Syndrome 1	Ventricular septal defect, Avascular necrosis of the capital femoral epiphysis, Increased serum i...	OMIM:222470
Bile Acid Synthesis Defect, Congenital, 1	Conjugated hyperbilirubinemia, Rickets, Steatorrhea, Hypocholesterolemia	OMIM:607765
Charcot-Marie-Tooth Disease, Type 4C	Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial...	OMIM:601596
Mend Syndrome	Hyperactivity, Broad hallux, Overlapping toe, Abnormal auditory evoked potentials, Aggressive beh...	ORPHA:401973
Generalized Pustular Psoriasis	Hyponatremia, Elevated circulating C-reactive protein concentration, Pedal edema, Hypoalbuminemia...	ORPHA:247353
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated circulating alpha-fetoprotein concentration, Hypoalbuminemia, Hyperbilirubinemia, Hypogl...	OMIM:251880
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Nail-biting, Hyperactivity, Aggressive behavior, EEG with generalized epileptiform discharges, Se...	OMIM:619827
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Abnormality of retinal pigmentation, Inability to walk, Optic atrophy, Abnormal heart morphology,...	ORPHA:505248
Adult-Onset Autosomal Dominant Leukodystrophy	Tremor, Dysmetria, Gait ataxia, Intention tremor, Ataxia, Gait disturbance, Abnormal autonomic ne...	ORPHA:99027
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Delayed epiphyseal ossification...	OMIM:600081
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microretrognathia, Rhizomelia, Postaxial polydactyly, Squared iliac bones, Preaxial polydactyly, ...	OMIM:616300
Gollop-Wolfgang Complex	Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o...	ORPHA:1986
Tibial Aplasia-Ectrodactyly Syndrome	Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand...	ORPHA:3329
Chromosome 2Q37 Deletion Syndrome	Hyperactivity, Short fourth metatarsal, Short metacarpal, Aggressive behavior, Sensorineural hear...	OMIM:600430
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Micrognathia, Protruding ear, Clinodactyly of the 5th finger, Short ...	OMIM:268305
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact...	OMIM:612576
Femoral-Facial Syndrome	Short femur, Maternal diabetes, Micrognathia, Coxa vara, Abnormal fibula morphology, Abnormal pel...	ORPHA:1988
Galloway-Mowat Syndrome 3	Arachnodactyly, Micrognathia, Hip dislocation, Hypoalbuminemia, Low-set ears, Camptodactyly	OMIM:617729
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Bulging epiphyses, Bowing of the long bones, Delayed epiphyseal ossification, Rickets, Genu varum...	OMIM:600785
Amoebiasis Due To Entamoeba Histolytica	Constrictive pericarditis, Hypoalbuminemia, Abnormal pericardium morphology	ORPHA:67
Chylomicron Retention Disease	Hypertriglyceridemia, Retinopathy, Steatorrhea, Hypocholesterolemia	ORPHA:71
Late Infantile Neuronal Ceroid Lipofuscinosis	Hyperactivity, Ataxia, EEG with spike-wave complexes, Aggressive behavior, Inability to walk, EEG...	ORPHA:168491
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Abnormal pinna morphology, Postaxial polydactyly, Micrognathia, Complete atrioventricular canal d...	OMIM:617925
Gaisböck Syndrome	Hypertriglyceridemia, Diabetes mellitus, Hyperproteinemia, Increased circulating renin level, Hyp...	ORPHA:90041
Tay-Sachs Disease	Short attention span, Exaggerated startle response, Dystonia, Increased serum beta-hexosaminidase...	ORPHA:845
Primary Biliary Cholangitis	Orthostatic hypotension, Conjugated hyperbilirubinemia, Osteoporosis, Hypoalbuminemia, Abnormal c...	ORPHA:186
Juvenile Polyposis Of Infancy	Abnormal heart morphology, Clubbing of fingers, Midclavicular hypoplasia, Hypoalbuminemia, Low-se...	ORPHA:79076
8p23.1 deletion syndrome	Atrial septal defect, Hyperactivity, Atrioventricular canal defect, Abnormal heart morphology	DECIPHER:39
Intellectual Developmental Disorder, Autosomal Recessive 38	Hyperactivity, Sandal gap, Aggressive behavior, Unsteady gait, Diminished ability to concentrate,...	OMIM:615516
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Resting tremor, Hyperactivity, Broad-based gait, Focal EEG discharges with secondary generalizati...	ORPHA:3077
Ataxia With Vitamin E Deficiency	Hypertriglyceridemia, Ataxia, Dysmetria, Increased LDL cholesterol concentration, Progressive cer...	OMIM:277460
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypertyrosinemia, Hypoglycemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethioninemi...	OMIM:617156
Kaufman Oculocerebrofacial Syndrome	Optic disc pallor, Atrial septal defect, Congenital hip dislocation, Abnormal pinna morphology, V...	OMIM:244450
Orofaciodigital Syndrome Type 2	Finger syndactyly, Broad hallux, Micrognathia, Short tibia, Central retinal vessel vascular tortu...	ORPHA:2751
Dubowitz Syndrome	Syndactyly, Hyperactivity, Pes planus, Short attention span, Micrognathia, Protruding ear, Low-se...	OMIM:223370
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,...	OMIM:228930
Secondary Intestinal Lymphangiectasia	Reduced circulating transferrin concentration, Hypoalbuminemia, Hypocholesterolemia, Constrictive...	ORPHA:90363
Laurin-Sandrow Syndrome	Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B...	OMIM:135750
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Osteomalacia, Bowing of the legs, Abnormal circulating calcium conc...	OMIM:307800
Hemophagocytic Syndrome Associated With An Infection	Increased circulating ferritin concentration, Hyperproteinemia, Hypertriglyceridemia, Ataxia	ORPHA:158048
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Peripheral retinal avascularization, Micrognathia, Tibial bowing, Hypoplastic iliac wing, Atrial ...	ORPHA:96334
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Retinal detachment, Exaggerated startle response, Elevated circulating creatine kinase concentrat...	OMIM:253800
Cntnap2-Related Developmental And Epileptic Encephalopathy	Hyperactivity, Ataxia, Aggressive behavior, EEG with generalized polyspikes, Preaxial polydactyly...	ORPHA:163681
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Abnormal blood ion concentration, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Type I diabetes ...	ORPHA:37042
Cockayne Syndrome Type 1	Absent brainstem auditory responses, Ataxia, Foot joint contracture, Tremor, Optic atrophy, Pigme...	ORPHA:90321
Juvenile Polyposis Syndrome	Hypokalemia, Hypoalbuminemia, Clubbing	OMIM:174900
Infantile Neuroaxonal Dystrophy	Psychomotor deterioration, Short attention span, Hyperactivity, Dystonia, Ataxia, Impulsivity, Un...	ORPHA:35069
19P13.12 Microdeletion Syndrome	Finger syndactyly, Hyperactivity, Toe clinodactyly, Sandal gap, Atrial septal defect, Craniosynos...	ORPHA:254346
Abcd Syndrome	Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Neona...	OMIM:600501
X-Linked Cerebral Adrenoleukodystrophy	Short attention span, Hyperactivity, Decreased circulating cortisol level, Ataxia, Confusion, Abn...	ORPHA:139396
16P12.1P12.3 Triplication Syndrome	Hallux valgus, Nail-biting, Hyperactivity, Prominent fingertip pads, Atrial septal defect, Tapere...	ORPHA:485405
Gm2 Gangliosidosis, Ab Variant	Exaggerated startle response, Abnormal fear-induced behavior, Inappropriate behavior, Cognitive i...	ORPHA:309246
Marburg Hemorrhagic Fever	Pericarditis, Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperamylasemia, ...	ORPHA:99826
Multiple Myeloma	Osteopenia, Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia	ORPHA:29073
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Retinal dystrophy, Ventricular septal defect, Preaxial hand polydactyly, Postaxial hand polydacty...	OMIM:263520
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hyperlipidemia, Hypoalbuminemia, Pedal edema	ORPHA:567546
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Cupped ear, Hand monodacty...	OMIM:119100
Developmental Delay, Language Impairment, And Ocular Abnormalities	Hyperactivity, Impulsivity, Aggressive behavior, Contracture of the proximal interphalangeal join...	OMIM:620141
Acromelic Frontonasal Dysostosis	Syndactyly, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Preaxial polydactyly...	OMIM:603671
Acrodysostosis 2 With Or Without Hormone Resistance	Short metacarpal, Hyperactivity, Diabetes mellitus, Short metatarsal, Advanced ossification of ca...	OMIM:614613
Dyggve-Melchior-Clausen Disease	Glenoid fossa hypoplasia, Coxa vara, Hyperactivity, Iliac crest serration, Rhizomelia, Hypoplasia...	ORPHA:239
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Optic disc pallor, Broad finger, Abnormal auditory evoked potentials	OMIM:617523
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Talipes, Tarsal synostosis, A...	ORPHA:2378
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F...	ORPHA:166016
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Limitation of movement at ankles, Short attention span, Hyperactivity, Broad-based gait, Ataxia, ...	ORPHA:98794
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Hypoglycemia, Rickets, Reduced bone mineral density, Hypoalbuminemia, Hypocalcemia, U...	OMIM:613658
Biliary, Renal, Neurologic, And Skeletal Syndrome	Osteopenia, Conjugated hyperbilirubinemia, Secundum atrial septal defect, Primum atrial septal de...	OMIM:619534
Leptospirosis	Papilledema, Pericarditis, Anorexia, Retinal hemorrhage, Chorioretinitis, Hyperproteinemia, Optic...	ORPHA:509
Mody	Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu...	ORPHA:552
Intellectual Developmental Disorder, Autosomal Recessive 54	Exaggerated startle response, Attention deficit hyperactivity disorder	OMIM:617028
Hypophosphatemic Rickets, X-Linked Recessive	Bulging epiphyses, Enlargement of the ankles, Osteomalacia, Bowing of the legs, Delayed epiphysea...	OMIM:300554
Leukodystrophy, Hypomyelinating, 13	Prolonged brainstem auditory evoked potentials, Exaggerated startle response, Optic atrophy, Ataxia	OMIM:616881
Seckel Syndrome 10	Microretrognathia, Retinal detachment, Ventricular hypertrophy, Hypertriglyceridemia, Diabetes me...	OMIM:617253
Arthrogryposis, Distal, Type 2A	Hip contracture, Shoulder flexion contracture, Abnormal auditory evoked potentials, Hearing impai...	OMIM:193700
Omodysplasia 1	Short humerus, Atrial septal defect, Rhizomelia, Increased fibular diameter, Ventricular septal d...	OMIM:258315
Neurodevelopmental Disorder With Or Without Autism Or Seizures	Hyperactivity, Absent thumb, EEG with burst suppression, Hypsarrhythmia, Pulmonic stenosis, Atria...	OMIM:619239
Atelosteogenesis Type Iii	Absent humerus, Epiphyseal stippling of the humerus, Micrognathia, Short tubular bones of the han...	ORPHA:56305
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Stillbirth, Bilate...	OMIM:119800
Infantile Krabbe Disease	Psychomotor deterioration, Prolonged brainstem auditory evoked potentials, Progressive neurologic...	ORPHA:206436
Intellectual Developmental Disorder, Autosomal Dominant 45	Pes planus, Hyperactivity, Arachnodactyly, Attention deficit hyperactivity disorder, Pulmonic ste...	OMIM:617600
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Palmoplantar keratoderma, Hypoalbuminemia, Craniosynostosis	ORPHA:79396
X-Linked Creatine Transporter Deficiency	Hyperactivity, Ataxia, Aganglionic megacolon, Abnormal circulating creatine concentration, Atheto...	ORPHA:52503
Adult Krabbe Disease	Prolonged brainstem auditory evoked potentials, Broad-based gait, Ataxia, Progressive neurologic ...	ORPHA:206448
Thrombocytopenia-Absent Radius Syndrome	Low-set, posteriorly rotated ears, Finger syndactyly, Tibial torsion, Micrognathia, Absent radius...	ORPHA:3320
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Sensorineural hearing impairment, Hip dislocation, Abnormal auditory evoked potentials, Coxa valga	OMIM:109120
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Pes planus, Hyperactivity, Short attention span, Diabetes mellitus, Aggressive behavior, Macrotia...	ORPHA:449291
Mucopolysaccharidosis, Type Iiib	Hyperactivity, Progressive neurologic deterioration, Cardiomegaly, Aggressive behavior, Asymmetri...	OMIM:252920
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ...	OMIM:613091
Acromesomelic Dysplasia 2B	Short metacarpal, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Absent toe, Short meta...	OMIM:228900
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Optic disc pallor, Exaggerated startle response, Inability to walk, Optic atrophy, Absent Achille...	OMIM:609541
Dent Disease 1	Bulging epiphyses, Enlargement of the ankles, Osteomalacia, Bowing of the legs, Delayed epiphysea...	OMIM:300009
Primary Sclerosing Cholangitis	Osteopenia, Hypoalbuminemia, Osteoporosis, Type I diabetes mellitus	ORPHA:171
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Radial deviation of the hand, Talipes, Micrognathia, Short thumb, Hypopla...	OMIM:227270
Occipital Horn Syndrome	Osteopenia, Coxa vara, Humerus varus, Short palm, Large iliac wing, Osteomalacia, Aplastic clavic...	ORPHA:198
Trisomy 10P	Thumb contracture, Posteriorly rotated ears, Abnormal auditory evoked potentials, Micrognathia, E...	ORPHA:171929
Tangier Disease	Hypertriglyceridemia, Facial diplegia, Hypocholesterolemia, Left ventricular hypertrophy, Coronar...	ORPHA:31150
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Ulnar bowing, Split hand, Mesomeli...	OMIM:171480
Insulin-Like Growth Factor I Deficiency	Osteopenia, Short attention span, Hyperactivity, Micrognathia, Sensorineural hearing impairment, ...	OMIM:608747
Mucopolysaccharidosis Type 3	Progressive neurologic deterioration, Cardiomegaly, Reduced bone mineral density, Thickened helic...	ORPHA:581
Cockayne Syndrome A	Hip contracture, Retinal atrophy, Ataxia, Abnormal pinna morphology, Abnormal auditory evoked pot...	OMIM:216400
Mucopolysaccharidosis Type 2	Progressive neurologic deterioration, Abnormal tricuspid valve morphology, Conductive hearing imp...	ORPHA:580
Choreoacanthocytosis	Elevated circulating creatine kinase concentration, Peroneal muscle atrophy, Compulsive behaviors...	ORPHA:2388
Juvenile Polyposis Syndrome	Clubbing of fingers, Hypoproteinemia, Low-set ears	ORPHA:2929
Hyperlysinemia	Short attention span, Hyperactivity, Craniosynostosis, EEG with spike-wave complexes, Tremor, Hyp...	ORPHA:2203
Spastic Paraplegia 29, Autosomal Dominant	Hyperactivity, Pes cavus, Neonatal hyperbilirubinemia, Sensorineural hearing impairment	OMIM:609727
Microphthalmia With Limb Anomalies	Toe syndactyly, Posteriorly rotated ears, Sandal gap, Capitate-hamate fusion, 2-3 toe cutaneous s...	OMIM:206920
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Optic disc pallor, Exaggerated startle response, Optic atrophy, Difficulty walking, Hyporeflexia ...	ORPHA:320406
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia...	ORPHA:988
Neurodegeneration With Brain Iron Accumulation 2B	Short attention span, Hyperactivity, Dystonia, Impulsivity, Optic atrophy, Dysmetria, Gait ataxia...	OMIM:610217
Immunodeficiency 82 With Systemic Inflammation	Osteomalacia, Elevated circulating C-reactive protein concentration, Anorexia, Hypoalbuminemia, H...	OMIM:619381
Plaa-Associated Neurodevelopmental Disorder	Low-set, posteriorly rotated ears, Hyperextensibility of the finger joints, Exaggerated startle r...	ORPHA:521426
Mesomelic Dysplasia, Savarirayan Type	Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Hip dislocation, Hig...	ORPHA:85170
Glycine Encephalopathy With Normal Serum Glycine	Hip contracture, Exaggerated startle response, Genu recurvatum, Overlapping toe, Optic atrophy, H...	OMIM:617301
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly	OMIM:228250
Pitt-Hopkins-Like Syndrome 1	Hyperactivity, Ataxia, Aggressive behavior, EEG abnormality, Progressive language deterioration, ...	OMIM:610042
Stiff Person Spectrum Disorder	Exaggerated startle response, Diabetes mellitus, Falls, Difficulty walking	ORPHA:3198
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Short attention span, Exaggerated startle response, Optic nerve hypoplasia, Inability to walk, Ma...	OMIM:617864
Mogs-Cdg	Absent brainstem auditory responses, Cardiomegaly, Sensorineural hearing impairment, Optic atroph...	ORPHA:79330
Fibrochondrogenesis 1	Hypoplastic scapulae, Abnormal pinna morphology, Rhizomelia, Dumbbell-shaped long bone, Broad lon...	OMIM:228520
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Hyperactivity, Hypokalemia, Self-biting, Hypomagnesemia	OMIM:618314
Acromesomelic Dysplasia 3	Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st...	OMIM:609441
Neurodegeneration With Brain Iron Accumulation 1	Hyperactivity, Dystonia, Ataxia, Akinesia, Retinal degeneration, Tremor, Abnormal foot morphology...	OMIM:234200
Atelosteogenesis, Type I	Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Neonatal death, Vertebral hypopl...	OMIM:108720
Gm1 Gangliosidosis Type 1	Exaggerated startle response, Broad long bone diaphyses, Hypoplastic vertebral bodies, Flattened ...	ORPHA:79255
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hypoplasia of the ulna, Conjugated hyperbilirubinemia, Early ossification of capital femoral epip...	OMIM:208500
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Abnormal tibia morphology, Fibul...	ORPHA:2634
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Exaggerated startle response, Posteriorly rotated ears, Rocker bottom foot, Postaxial polydactyly...	OMIM:617527
Asparagine Synthetase Deficiency	Exaggerated startle response, Optic nerve hypoplasia, Long foot, Micrognathia, Tremor, EEG with b...	OMIM:615574
Spastic Tetraplegia And Axial Hypotonia, Progressive	Exaggerated startle response, Posteriorly rotated ears, Overlapping toe, Ataxia, Ankle clonus, Lo...	OMIM:618598
Tropical Endomyocardial Fibrosis	Right ventricular cardiomyopathy, Left atrial enlargement, Cardiomegaly, Pedal edema, Myocardial ...	ORPHA:75565
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Agitation, Clin...	OMIM:618056
Cockayne Syndrome B	Ataxia, Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve conductio...	OMIM:133540
Charge Syndrome	Micrognathia, Secundum atrial septal defect, Hand monodactyly, Hypocalcemia, Atrial septal defect...	OMIM:214800
Sandhoff Disease	Orthostatic hypotension, Exaggerated startle response, Ataxia, Cardiomegaly, Progressive psychomo...	OMIM:268800
Eiken Syndrome	Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl...	OMIM:600002
Developmental And Epileptic Encephalopathy 49	Hyperactivity, Exaggerated startle response, Optic atrophy, EEG abnormality, Macrotia	OMIM:617281
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Exaggerated startle response, Oculogyric crisis, Tongue thrusting, Limb tremor, Chor...	OMIM:608643
Hydrolethalus Syndrome 1	Abnormal pinna morphology, Ventricular septal defect, Micrognathia, Preaxial hand polydactyly, Po...	OMIM:236680
Tay-Sachs Disease	Psychomotor deterioration, Cherry red spot of the macula, Exaggerated startle response, Dementia	OMIM:272800
Acro-Renal-Mandibular Syndrome	Low-set, posteriorly rotated ears, Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapula...	ORPHA:958
Thrombocytopenia-Absent Radius Syndrome	Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodac...	OMIM:274000
Pmm2-Cdg	Osteopenia, Pes planus, Pericarditis, Ataxia, Abnormal pinna morphology, Pericardial effusion, Lo...	ORPHA:79318
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Absent brainstem auditory responses, Torticollis, Ataxia, Aganglionic megacolon, Short-segment ag...	OMIM:609136
Cranioectodermal Dysplasia 1	Broad toe, Brachydactyly, Short humerus, Retinal dystrophy, Rhizomelia, Sagittal craniosynostosis...	OMIM:218330
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Short attention span, Broad-based gait, Exaggerated startle response, Ataxia, External ear malfor...	ORPHA:438216
Ophthalmomandibulomelic Dysplasia	Radial bowing, Coxa valga, Lateral humeral condyle aplasia, Fibular hypoplasia, Mesomelia, Ulnar ...	OMIM:164900
Omodysplasia 2	Short humerus, Posteriorly rotated ears, Micrognathia, Fibular hypoplasia, Hypoplastic distal hum...	OMIM:164745
Campomelic Dysplasia	Poorly ossified cervical vertebrae, 11 pairs of ribs, Bowing of the long bones, Small abnormally ...	ORPHA:140
Campomelic Dysplasia	Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patellar hypoplasia, Femor...	OMIM:114290
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Macrotia, Hypoalbuminemia	OMIM:614748
Hyperthyroidism, Nonautoimmune	Hyperactivity, Increased circulating thyroglobulin level	OMIM:609152
Early Infantile Epileptic Encephalopathy	Hyperactivity, Dystonia, Ventricular septal defect, Tremor, EEG with burst suppression, Hypsarrhy...	ORPHA:1934
Hyperekplexia-Epilepsy Syndrome	EEG with temporal focal spikes, Exaggerated startle response	ORPHA:163985
Acrofacial Dysostosis, Rodríguez Type	Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal pelvic gird...	ORPHA:1788
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Inability to walk, Exaggerated startle response, Hearing impairment	OMIM:620114
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Exaggerated startle response, Tremor, Atrial septal defect, Patent foramen ovale, Hearing impairment	OMIM:620327
Legius Syndrome	Short attention span, Hyperactivity, Mitral valve prolapse, Diaphyseal dysplasia, Xanthelasma, Ve...	ORPHA:137605
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Osteopenia, Optic disc pallor, Broad-based gait, Exaggerated startle response, Dystonia, Bicuspid...	ORPHA:438213
Stiff-Person Syndrome	Exaggerated startle response, Diabetes mellitus, Opisthotonus	OMIM:184850
Acheiropodia	Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e...	ORPHA:931
Acrorenal-Mandibular Syndrome	Hypoplasia of the ulna, Toe syndactyly, Posteriorly rotated ears, Hypoplastic scapulae, Micrognat...	OMIM:200980
Sandhoff Disease, Infantile Form	Cherry red spot of the macula, Exaggerated startle response, Mitral valve prolapse	ORPHA:309155
Fibular Dimelia-Diplopodia Syndrome	Absent tibia	ORPHA:1757
Tibial Hemimelia	Absent tibia	OMIM:275220
Acromelic Frontonasal Dysplasia	Preaxial foot polydactyly, Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Patellar hypoplasia	ORPHA:1827
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Micrognathia, Short metatarsal, Femoral bowing, Tibial bowing, Conduc...	OMIM:304120
Osteopathia Striata With Cranial Sclerosis	Atrial septal defect, Paranasal sinus hypoplasia, Posteriorly rotated ears, Facial palsy, Arachno...	OMIM:300373
Osteofibrous Dysplasia, Susceptibility To	Pseudoarthrosis, Fibular hypoplasia	OMIM:607278
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Aplasia/hypoplasia of the extremities, Femoral bowing, Foot oligodactyly, Long ear, Aplasia/Hypop...	OMIM:276820
Gm2-Gangliosidosis, Ab Variant	Exaggerated startle response, Dementia, Dystonia	OMIM:272750
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Short humerus, Exaggerated startle response, Short femur, Tapered finger, Dysphagia, EEG with gen...	OMIM:618367
Kinsship Syndrome	Osteopenia, Pes planus, Micrognathia, Coxa valga, Hip dislocation, Fibular hypoplasia, Mesomelia,...	OMIM:619297
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Broad toe, Exaggerated startle response, Atrial septal defect, Posteriorly rotated ears, Ventricu...	OMIM:619522
Histidinemia	Hyperactivity, Hyperhistidinemia	ORPHA:2157
Hyperekplexia 1	Exaggerated startle response, Hip dislocation	OMIM:149400
Developmental And Epileptic Encephalopathy 68	Exaggerated startle response	OMIM:618201
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response	OMIM:300607
Orofaciodigital Syndrome Type 4	Finger syndactyly, Microtia, third degree, Posteriorly rotated ears, Camptodactyly of finger, Mic...	ORPHA:2753
Hyperekplexia 3	Exaggerated startle response	OMIM:614618
Hyperekplexia 2	Exaggerated startle response	OMIM:614619
Schneckenbecken Dysplasia	Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas...	ORPHA:3144
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Low-set, posteriorly rotated ears, Mixed hearing impairment, Brachydactyly, Ventricular septal de...	ORPHA:444077
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Exaggerated startle response	OMIM:608800

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 20.1 Data