Gene Summary

AP2 associated kinase 1
D6Ertd245e,  5530400K14Rik

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, incomplete penetrance Aak1tm1b(EUCOMM)Hmgu HOM   Early adult 0.00
decreased circulating total protein level Aak1tm1b(EUCOMM)Hmgu HOM Early adult 7.20×10-07
abnormal auditory brainstem response Aak1tm1b(EUCOMM)Hmgu HOM   Early adult 4.27×10-16
increased circulating alkaline phosphatase level Aak1tm1b(EUCOMM)Hmgu HOM Early adult 3.27×10-11
increased circulating alanine transaminase level Aak1tm1b(EUCOMM)Hmgu HOM Early adult 5.01×10-05
increased vertical activity Aak1tm1b(EUCOMM)Hmgu HOM Early adult 3.21×10-13
increased circulating aspartate transaminase level Aak1tm1b(EUCOMM)Hmgu HOM Early adult 3.45×10-15
decreased circulating cholesterol level Aak1tm1b(EUCOMM)Hmgu HOM   Early adult 5.63×10-05
abnormal heart left ventricle morphology Aak1tm1b(EUCOMM)Hmgu HOM   Early adult 3.41×10-05
increased prepulse inhibition Aak1tm1b(EUCOMM)Hmgu HOM Early adult 3.04×10-06
hyperactivity Aak1tm1b(EUCOMM)Hmgu HOM   Early adult 3.54×10-05
decreased circulating serum albumin level Aak1tm1b(EUCOMM)Hmgu HOM Early adult 4.81×10-05
abnormal bone structure Aak1tm1b(EUCOMM)Hmgu HOM   Early adult 3.80×10-10
short tibia Aak1tm1b(EUCOMM)Hmgu HOM Early adult 4.70×10-14
abnormal contextual conditioning behavior Aak1tm1b(EUCOMM)Hmgu HOM   Early adult 3.57×10-05
abnormal retina outer nuclear layer morphology Aak1tm1b(EUCOMM)Hmgu HOM   Early adult 6.76×10-05
impaired glucose tolerance Aak1tm1b(EUCOMM)Hmgu HOM Early adult 8.41×10-05
decreased grip strength Aak1tm1b(EUCOMM)Hmgu HOM   Early adult 4.91×10-06
decreased startle reflex Aak1tm1b(EUCOMM)Hmgu HOM Early adult 5.19×10-07

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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.


XRay Images Whole Body Dorso Ventral

16 Images


XRay Images Whole Body Lateral Orientation

16 Images

Human diseases caused by Aak1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Aak1 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Ataxia, Pes cavus, Steppage gait, Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Gait ataxia, Cognitive impairment, Truncal ataxia, Limb ataxia, Ataxia, Elevated circulating crea... OMIM:208920
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Ataxia, Pes cavus, Steppage gait, Distal lower limb muscle weakness, Hypercholesterolemia, Hypoal... ORPHA:94124
Citrullinemia Type Ii
Hyperactivity, Memory impairment, Acute hyperammonemia, Hypoproteinemia, Decreased HDL cholestero... ORPHA:247585
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Hypocholesterolemia, Decreased circulating apolipoprotein A-I concentration, Decreased HDL choles... OMIM:620058
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Cardiomyopathy, Hypermethioninemia, Increased circulating creatine kinase MM isoform, Hypoalbumin... OMIM:613752
Decreased LDL cholesterol concentration, Rod-cone dystrophy, Shortening of all distal phalanges o... ORPHA:79320
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia, Clinodactyly of the 5th finger, Chorioretinal coloboma ORPHA:1116
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Craniosynostosis, Hypoalbuminemia ORPHA:88643
Acrocapitofemoral Dysplasia
Short tibia, Flared iliac wing, Short proximal phalanx of finger, Short femur, Enlargement of the... OMIM:607778
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypercholesterolemia, Gait imbalance, Postural tremor, Choreoathetosis, Ataxia, Elevated circulat... ORPHA:64753
Immunodeficiency 43
Radial bowing, Hypoplasia of the ulna, Hypoproteinemia, Decreased circulating beta-2-microglobuli... OMIM:241600
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Hypercho... OMIM:616000
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia, Pedal edema, Stillbirth OMIM:152800
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia OMIM:615863
Cholestasis, Progressive Familial Intrahepatic, 10
Increased total bilirubin, Increased serum bile acid concentration, Hypercholesterolemia, Conjuga... OMIM:619868
Fibular Hemimelia
Short tibia, Hip subluxation, Limited knee flexion/extension, Hypoplastic acetabulae, Toe syndact... ORPHA:93323
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia, Sensorineural hearing impairment OMIM:221400
Ataxia-Oculomotor Apraxia 4
Cognitive impairment, Ataxia, Elevated circulating alpha-fetoprotein concentration, Hypercholeste... OMIM:616267
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Congenital Disorder Of Glycosylation, Type Ij
Hypsarrhythmia, Micrognathia, Clinodactyly of the 5th finger, Hypoproteinemia, Tremor OMIM:608093
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Steatorrhea, Hypotriglyceridemia, Hypocholesterolemia, H... OMIM:246700
Acromesomelic Dysplasia 2A
Short tibia, Short phalanx of finger, Aplasia/Hypoplasia involving the metacarpal bones, Hypoplas... OMIM:200700
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased total bilirubin, Increased VLDL cholesterol concentration, Ataxia, Increased LDL choles... OMIM:267700
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Short tibia, Absent ossification of thoracic vertebral bodies, Hypoplasia of the radius, Absent o... OMIM:601376
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia, Intention tremor, Osteopenia, Erlenmeyer flask deformity of the femurs OMIM:610539
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia OMIM:603278
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short tibia, Short 4th metacarpal, Short long bone, Epiphyseal stippling, Short 3rd metacarpal, L... OMIM:118651
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia OMIM:256300
Primary Membranoproliferative Glomerulonephritis
Drusen, Hypoalbuminemia ORPHA:54370
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Short tibia, Hip subluxation, Camptodactyly of finger, Sensorineural hearing impairment, Coxa val... ORPHA:356961
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Patent foramen ovale, Increased circulating free fatty acid level, Vent... ORPHA:26793
Syndactyly Type 4
Triphalangeal thumb, Camptodactyly of finger, Short tibia, Foot polydactyly, Toe syndactyly, Hand... ORPHA:93405
Coenzyme Q10 Deficiency, Primary, 3
Hypoalbuminemia OMIM:614652
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Congenital Analbuminemia
Pedal edema, Increased alpha-globulin, Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hyp... ORPHA:86816
Acromesomelic Dysplasia 2C
Short tibia, Short foot, Hypoplasia of the radius, Radial bowing, Cuboidal metacarpal, Hip disloc... OMIM:201250
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia OMIM:207731
Refractory Celiac Disease
Hypophosphatemia, Hypoproteinemia, Hypocalcemia, Hypomagnesemia, Osteoporosis, Hypoalbuminemia ORPHA:398063
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Osebold-Remondini Syndrome
Short tibia, Short toe, Short phalanx of finger, Hypoplasia of the radius, Carpal synostosis, Hyp... OMIM:112910
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Nephrotic Syndrome, Type 11
Arachnodactyly, Ventricular septal defect, Micrognathia, Clinodactyly, Dilated cardiomyopathy, Pa... OMIM:616730
Johanson-Blizzard Syndrome
Sensorineural hearing impairment, Abnormal cardiac septum morphology, Diabetes mellitus, Hypoprot... ORPHA:2315
Lethal Faciocardiomelic Dysplasia
Short tibia, Radial club hand, Short 5th finger, Hypoplasia of the radius, Microretrognathia, Hyp... ORPHA:1972
Galloway-Mowat Syndrome 8
Hearing impairment, Hypoalbuminemia OMIM:618349
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Clubbing, Hypoproteinemia, Clubbing of fingers, Hypoalbuminemia OMIM:226300
Mohr-Tranebjaerg Syndrome
Postlingual sensorineural hearing impairment, Ankle clonus, Sensorineural hearing impairment, Pre... ORPHA:52368
Acromesomelic Dysplasia, Grebe Type
Short tibia, Short toe, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia involving the metacar... ORPHA:2098
Potocki-Lupski Syndrome
Patent foramen ovale, Hyperactivity, EEG abnormality, Micrognathia, Atrial septal defect, Hypocho... OMIM:610883
Hyperlysinemia, Type I
Hyperlysinemia, Hyperactivity, Cognitive impairment OMIM:238700
Léri-Weill Dyschondrosteosis
Short tibia, Abnormal carpal morphology, Abnormal metaphysis morphology, Genu valgum, Abnormality... ORPHA:240
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Ataxia, Tremor, Mental deterioration, Hypertriglyceridemia, Dystonia OMIM:615924
Congenital Disorder Of Glycosylation, Type Ig
Short tibia, Patent foramen ovale, Sensorineural hearing impairment, Rhizomelia, Short ribs, Hypo... OMIM:607143
Peroxisome Biogenesis Disorder 3B
Rod-cone dystrophy, Sensorineural hearing impairment, Elevated circulating phytanic acid concentr... OMIM:266510
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased total bilirubin, Ataxia, Increased circulating ferritin concentration, Hypoproteinemia,... OMIM:603553
Ménétrier Disease
Hypoproteinemia, Hypoalbuminemia ORPHA:2494
Leri-Weill Dyschondrosteosis
Short tibia, Short toe, Short 4th metacarpal, Coxa valga, Abnormal carpal morphology, Hypoplasia ... OMIM:127300
Triokinase And Fmn Cyclase Deficiency Syndrome
Dilated cardiomyopathy, Broad-based gait, Hypoalbuminemia OMIM:618805
Fibronectin Glomerulopathy
Pedal edema, Hypoalbuminemia ORPHA:84090
Nephrotic Syndrome, Type 14
Sensorineural hearing impairment, Ataxia, Hypoglycemia, Mental deterioration, Hypertriglyceridemi... OMIM:617575
Squalene Synthase Deficiency
Knee flexion contracture, 2-3 toe syndactyly, Macrotia, Decreased LDL cholesterol concentration, ... OMIM:618156
Maternal Uniparental Disomy Of Chromosome 4
Decreased LDL cholesterol concentration, Sensorineural hearing impairment, Rod-cone dystrophy, Sp... ORPHA:96180
Chédiak-Higashi Syndrome
Cognitive impairment, Inability to walk, Pericardial effusion, Gait disturbance, Ataxia, Abnormal... ORPHA:167
Cardiomyopathy, Abnormal heart morphology, Hypoalbuminemia ORPHA:79327
Primary Intestinal Lymphangiectasia
Pericardial effusion, Hypoproteinemia, Hypocalcemia, Hypomagnesemia, Hypoalbuminemia ORPHA:90362
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Clubbing, Hyperostosis, Periostosis, Hypoalbuminemia OMIM:614441
Congenital Disorder Of Glycosylation, Type Ih
Perimembranous ventricular septal defect, Camptodactyly, Low-set ears, Neonatal death, Elevated c... OMIM:608104
Galloway-Mowat Syndrome 6
Clinodactyly of the 5th finger, Hypoalbuminemia OMIM:618347
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Ventricular septal defect, Micrognathia, Hypoproteinemia, Postaxial hand polydactyly, Low-set ear... OMIM:235255
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Short Rib-Polydactyly Syndrome
Short tibia, Polydactyly, Absent or minimally ossified vertebral bodies, Retinopathy, Abnormal pe... ORPHA:1505
Rajab Interstitial Lung Disease With Brain Calcifications 2
Arachnodactyly, Hypertriglyceridemia, Hypoalbuminemia OMIM:619013
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating polysaccharide concentration, Abnormal circulating protein concentration, Hy... ORPHA:103910
Dengue Fever
Hypoproteinemia ORPHA:99828
Hypobetalipoproteinemia, Familial, 1
Decreased LDL cholesterol concentration, Rod-cone dystrophy, Retinal degeneration, Ataxia, Steato... OMIM:615558
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Hypoplastic iliac wing, Hyperactivity, Conductive hearing impairment, Sensorineural hearing impai... OMIM:235510
Immunodeficiency 27A
Hypoplasia of the femoral head, Hypoalbuminemia OMIM:209950
Hyperprolinemia, Type I
Ataxia, Hyperactivity, Hyperprolinemia, EEG abnormality OMIM:239500
Combined Oxidative Phosphorylation Deficiency 37
Hyperalaninemia, Sensorineural hearing impairment, Optic atrophy, Chorioretinal hyperpigmentation... OMIM:618329
Langer Mesomelic Dysplasia
Short tibia, Broad ulna, Short femoral neck, Hypoplasia of the radius, Micrognathia, Radial bowin... OMIM:249700
Pes cavus, Hypopigmentation of the fundus, Steppage gait, Hypocholesterolemia, Talipes equinovaru... ORPHA:14
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... OMIM:616050
Coronary Artery Disease, Autosomal Dominant 2
Impaired glucose tolerance, Type II diabetes mellitus, Osteoporosis, Increased LDL cholesterol co... OMIM:610947
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Ventricular septal defect, Micrognathia, Hypoproteinemia, Postaxial hand polydactyly, Low-set ear... ORPHA:1655
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Talipes equinovar... OMIM:601382
Wolcott-Rallison Syndrome
Double outlet right ventricle, Neonatal insulin-dependent diabetes mellitus, Hyperbilirubinemia, ... ORPHA:1667
Patent foramen ovale, Sensorineural hearing impairment, Abnormal bone ossification, Short long bo... ORPHA:79324
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Gait ataxia, Postural tremor, Mental deterioration, Action tremor, Dysphagia, Unsteady gait, Inte... OMIM:254900
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Cardiomyopathy, Hypoproteinemia, Dilated cardiomyopathy, Elevated circulating creatine kinase con... OMIM:615895
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Congenital Disorder Of Glycosylation, Type Ia
Cardiomyopathy, Macrotia, Rod-cone dystrophy, Pericardial effusion, Ataxia, Steatorrhea, Pericard... OMIM:212065
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, EEG abnormality, Absent brainstem auditory responses, Choreoath... OMIM:617519
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Eosinophilic Gastroenteritis
Hypoalbuminemia, Elevated circulating C-reactive protein concentration, Steatorrhea, Dysphagia ORPHA:2070
S-Adenosylhomocysteine Hydrolase Deficiency
Hypermethioninemia, Cardiomyopathy, Hyperhomocystinemia, Pes planus, Elevated circulating creatin... ORPHA:88618
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Sensorineural hearing impairment, Decreased circulating ceruloplasmin concentration, Decreased ci... OMIM:242150
Ravine Syndrome
Abnormal auditory evoked potentials, Ataxia ORPHA:99852
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
Hyperinsulinemic hypoglycemia, Hypoalbuminemia ORPHA:79319
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Sensorineural hearing impairment, Abnormal retinal nerve fiber layer ... ORPHA:1215
Mucopolysaccharidosis-Plus Syndrome
Inability to walk, Optic atrophy, Chorioretinal hypopigmentation, Flared iliac wing, Acetabular d... OMIM:617303
Nephrotic Syndrome, Type 8
Sensorineural hearing impairment, Hypoalbuminemia OMIM:615244
Short tibia, Aplasia of the phalanges of the hand, Absent toe, Aplasia of metacarpal bones, Aplas... OMIM:200500
Insulin-Resistance Syndrome Type B
Abnormal circulating lipid concentration, Hyperinsulinemia, Fasting hypoglycemia, Diabetic ketoac... ORPHA:2298
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Neonatal hyperbilirubinemi... ORPHA:529808
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Neonatal hyperbilirubinemi... ORPHA:529799
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Short tibia, Absent thumb, Short femur, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius,... OMIM:612447
Al Amyloidosis
Abnormal cardiac atrium morphology, Abnormal autonomic nervous system physiology, Increased circu... ORPHA:85443
Orofaciodigital Syndrome Viii
Short tibia, Polydactyly, Syndactyly OMIM:300484
Acrofacial Dysostosis Syndrome Of Rodriguez
Short tibia, 11 pairs of ribs, Triphalangeal thumb, Micrognathia, Talipes equinovarus, Clinodacty... OMIM:201170
Wilson Disease
Pedal edema, Osteomalacia, Glycosuria, Limb dystonia, Decreased circulating ceruloplasmin concent... OMIM:277900
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal circulating lipid concentration, Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterol... ORPHA:567548
Stuve-Wiedemann Syndrome 1
Short tibia, Short phalanx of finger, Abnormal autonomic nervous system physiology, Micrognathia,... OMIM:601559
Leigh Syndrome With Nephrotic Syndrome
EEG with focal spikes, Cardiomegaly, Hypoalbuminemia ORPHA:255249
Orofaciodigital Syndrome Type 10
Short tibia, Short toe, Mesomelic leg shortening, Micrognathia, Metatarsal synostosis, Oligodacty... ORPHA:2756
Tibial Hemimelia
Short tibia, Polydactyly, Coxa valga, Hip dislocation, Metatarsus adductus, Aplasia of the 2nd me... ORPHA:93322
Aicardi-Goutieres Syndrome 9
Optic atrophy, Pericardial effusion, Left ventricular hypertrophy, Pericarditis, Chorioretinal at... OMIM:619487
Late-Infantile/Juvenile Krabbe Disease
Neuromuscular dysphagia, EEG with persistent abnormal rhythmic activity, Gait disturbance, Ataxia... ORPHA:206443
Lymphoproliferative Syndrome, X-Linked, 1
Elevated circulating C-reactive protein concentration, Hypoalbuminemia OMIM:308240
Congenital Disorder Of Glycosylation, Type Ib
Steatorrhea, Hyperinsulinemic hypoglycemia, Hypoalbuminemia OMIM:602579
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Mitral valv... OMIM:616648
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal auditory evoked potentials, Gait disturbance, Progressive sensorineural h... OMIM:125250
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Short tibia, Hypoplasia of the radius, Pseudoarthrosis OMIM:156230
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Short tibia, Foot oligodactyly, Hand oligodactyly, Syndactyly, Fibular aplasia, Tibial bowing OMIM:246570
Glycine Encephalopathy
Impulsivity, Hyperactivity, Restlessness, Hyperglycinemia OMIM:605899
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hyperlysinemia, Abnormal circulating lipid concentration, Hyperthreoninemia, Hypergalactosemia, H... ORPHA:247598
Hypoalbuminemia ORPHA:507
Eiken Syndrome
Short phalanx of finger, Broad foot, Short toe, Metaphyseal irregularity, Thin bony cortex, Abnor... ORPHA:79106
Omenn Syndrome
Hypoproteinemia OMIM:603554
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Abnormal audito... ORPHA:320401
Optic Atrophy 11
Hyperactivity, Macrotia, Gait apraxia, Optic atrophy, EEG with focal sharp waves, Optic nerve hyp... OMIM:617302
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity, Macrotia, Optic atrophy, Clinodactyly OMIM:300928
Severe Neurodegenerative Syndrome With Lipodystrophy
Gait ataxia, Hyperactivity, Hyperinsulinemia, Cognitive impairment, Limb dystonia, Insulin resist... ORPHA:363400
Endove Syndrome, Limb-Only Type
Aplasia of the distal phalanges of the toes, Disproportionate shortening of the tibia, Cutaneous ... OMIM:619217
Mesomelic Dysplasia, Savarirayan Type
Short tibia, Abnormal foot morphology, Hip dislocation, Talipes equinovalgus, Dislocated radial h... OMIM:605274
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Neonatal hypoglycemia, Elevated circulating creatine kinase concentration, Hypoglycemia, Neonatal... OMIM:619055
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Hypocholesterolemia, Decreased LDL cholesterol concentration, Decreased HDL cholesterol concentra... OMIM:616834
Macrophage Activation Syndrome
Hypertriglyceridemia, Increased circulating ferritin concentration, Elevated circulating C-reacti... ORPHA:158061
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Abnormal cardiomyocyte morphology, Dilated cardiomyopathy, Hypoalbuminemia ORPHA:367
Pierson Syndrome
Retinal hemorrhage, Macular hypoplasia, Retinal vascular tortuosity, Hypopigmentation of the fund... OMIM:609049
Hepatoportal Sclerosis
Hyperbilirubinemia, Cognitive impairment, Hypoalbuminemia ORPHA:64743
Myopathy With Extrapyramidal Signs
Hyperlysinemia, Hyperactivity, Ventricular septal defect, Optic atrophy, Calf muscle hypertrophy,... OMIM:615673
Immunodeficiency 32B
Hypoalbuminemia OMIM:226990
Microcephaly-Micromelia Syndrome
Short tibia, Absent thumb, Humeroradial synostosis, Micrognathia, Missing ribs, Absent radius, Ol... OMIM:251230
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Retinal degeneration, Macu... OMIM:619260
Congenital Enterovirus Infection
Pericardial effusion, Hyperammonemia, Hypoalbuminemia, Myocarditis, Cardiomyopathy ORPHA:292
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Hypsarrhythmia, Ataxia, Impulsivity, Attention deficit hyperactivity disorder OMIM:617113
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Choreoathetosis, Ataxia, Transient hyperphenylalaninemia, Tremor, Dystonia OMIM:612716
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Increased circulating ferritin concentration, Head titubatio... ORPHA:3240
Galloway-Mowat Syndrome 1
Macrotia, Optic atrophy, Micrognathia, Camptodactyly, Ataxia, Pes cavus, Slender finger, Low-set ... OMIM:251300
Landau-Kleffner Syndrome
Gait ataxia, Hyperactivity, Social and occupational deterioration, EEG with generalized epileptif... ORPHA:98818
Liver Failure, Infantile, Transient
Hyperbilirubinemia, Hypoalbuminemia OMIM:613070
Familial Hemophagocytic Lymphohistiocytosis
Hypertriglyceridemia, Increased circulating ferritin concentration, Sensorineural hearing impairm... ORPHA:540
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia ORPHA:656
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hyperactivity, Sensorineural hearing impairment, Prelingual sensorineural hearing impairment, Mic... ORPHA:73272
Refractory Anemia With Excess Blasts
Abnormal circulating albumin concentration, Abnormal circulating protein concentration, Retinal h... ORPHA:86839
Microphthalmia With Limb Anomalies
Short tibia, Optic atrophy, Toe syndactyly, Micrognathia, Hip dislocation, Postaxial hand polydac... ORPHA:1106
Xfe Progeroid Syndrome
Optic atrophy, Attenuation of retinal blood vessels, Pes cavus, Hearing impairment, Hypoalbuminemia OMIM:610965
Orofaciodigital Syndrome Iv
Short tibia, Toe syndactyly, Micrognathia, Foot polydactyly, Short finger, Hand polydactyly, Clin... OMIM:258860
Diarrhea 10, Protein-Losing Enteropathy Type
Pericardial effusion, Micrognathia, Hyponatremia, Low-set ears, Hypocalcemia, Hypertriglyceridemi... OMIM:618183
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Short phalanx of finger, Toe syndactyly, Micrognathia, Flared iliac wing, Aplasia/hypoplasia of t... OMIM:609945
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Triphalangeal thumb, Short tibia, Absent tibia, Preaxial polydactyly, Fibular duplication OMIM:188740
Lennox-Gastaut Syndrome
Hyperactivity, Falls, EEG abnormality, EEG with focal sharp slow waves, Mental deterioration ORPHA:2382
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia, Hypertrophic cardiomyopathy, Micrognathia, Neonatal death OMIM:618810
Orofaciodigital Syndrome Ix
Short tibia, Toe syndactyly, Hand polydactyly, Camptodactyly, Retinal coloboma OMIM:258865
Avian Influenza
Hypoalbuminemia, Elevated circulating C-reactive protein concentration, Elevated circulating crea... ORPHA:454836
Smith-Lemli-Opitz Syndrome
Hip subluxation, 2-3 toe syndactyly, Micrognathia, Epiphyseal stippling, Hip dislocation, Metatar... OMIM:270400
Cerebrotendinous Xanthomatosis
Optic atrophy, Abnormal auditory evoked potentials, Pes cavus, Progressive psychomotor deteriorat... ORPHA:909
Metaphyseal Dysplasia, Braun-Tinschert Type
Thin bony cortex, Broad tibial metaphyses, Increased bone mineral density, Broad femoral head, Fi... ORPHA:85188
Smith-Magenis Syndrome
Hyperactivity, EEG abnormality, Retinal detachment, Brachydactyly, Abnormal heart morphology, Hyp... OMIM:182290
Liver Disease, Severe Congenital
Subvalvular aortic stenosis, Patent foramen ovale, Hyperalaninemia, Dilatation of the ventricular... OMIM:619991
Trichohepatoenteric Syndrome 1
Hypermethioninemia, Abnormality of iron homeostasis, Ventricular septal defect, Avascular necrosi... OMIM:222470
Bent Bone Dysplasia Syndrome 2
Short tibia, Short sternum, Hypoplastic iliac wing, Hypoplastic acetabulae, Short 1st metacarpal,... OMIM:620076
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hyperbilirubinemia, Hypoalbuminemia, Hypoglycemia, Elevated circulating alpha-fetoprotein concent... OMIM:251880
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Pes cavus, Difficulty walking, Hammertoe, Abnormal cra... OMIM:601596
Rasmussen Subacute Encephalitis
Hyperactivity, Cognitive impairment, Inability to walk, Increased theta frequency activity in EEG... ORPHA:1929
Acrocraniofacial Dysostosis
Conductive hearing impairment, Sensorineural hearing impairment, Short first metatarsal, Short 1s... OMIM:201050
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Gait disturbance, Decreased nerve conduction velocity, Talip... OMIM:601455
Bile Acid Synthesis Defect, Congenital, 1
Hypocholesterolemia, Rickets, Steatorrhea, Conjugated hyperbilirubinemia OMIM:607765
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Decreased plasma carnitine, Decreased serum iron, Dilated cardiomyopathy, Dysphagia, Abnormal cir... ORPHA:89842
Charcot-Marie-Tooth Disease Type 1F
Gait ataxia, Sensorineural hearing impairment, Cognitive impairment, Inability to walk, Absent br... ORPHA:101085
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Patent foramen ovale, Inability to walk, Optic atrophy, Atrial septal defect, Abnormality of reti... ORPHA:505248
Adult-Onset Autosomal Dominant Leukodystrophy
Abnormal auditory evoked potentials, Abnormal autonomic nervous system physiology, Action tremor,... ORPHA:99027
Dyschondrosteosis And Nephritis
Short tibia, Radial bowing, Ulnar bowing, Short forearm OMIM:127350
Amoebiasis Due To Entamoeba Histolytica
Abnormal pericardium morphology, Constrictive pericarditis, Hypoalbuminemia ORPHA:67
Bacterial Toxic-Shock Syndrome
Elevated circulating creatine kinase concentration, Abnormality of the lower limb, Elevated circu... ORPHA:36234
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the tibia, Hand monodactyly, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia ... ORPHA:1986
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Short tibia, Macrotia, Rhizomelia, Short ribs, Short long bone, Flat acetabular roof, Microretrog... OMIM:616300
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the tibia, Preaxial hand polydactyly, Finger syndactyly, Patellar aplasia, ... ORPHA:3329
Galloway-Mowat Syndrome 3
Micrognathia, Hip dislocation, Camptodactyly, Arachnodactyly, Low-set ears, Hypoalbuminemia OMIM:617729
Mend Syndrome
2-3 toe syndactyly, Hyperactivity, Abnormal auditory evoked potentials, Micrognathia, Hand polyda... ORPHA:401973
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Genu varum, Genu valgum, Metaphyseal irregularity, Thin bony cortex, Generalized bone demineraliz... OMIM:600785
Chylomicron Retention Disease
Hypocholesterolemia, Retinopathy, Hypertriglyceridemia, Steatorrhea ORPHA:71
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Coxa vara, Microtia, Micrognathia, Hip dysplasia, Maternal diabe... ORPHA:1988
Juvenile Polyposis Of Infancy
Clubbing of fingers, Atrial septal defect, Broad thumb, Abnormal heart morphology, Midclavicular ... ORPHA:79076
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Orthostatic hypotension, Osteoporosis, Conjugated hyper... ORPHA:186
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Continuous spike and waves during slow sleep, Hyperactivity, Impulsivity, Attention deficit hyper... OMIM:301008
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Short tibia, Hypoplastic pubic bone, Microtia, Short ribs, Micrognathia, Short long bone, Narrow ... OMIM:617925
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Short tibia, Short toe, Short phalanx of finger, Absent toe, Short metacarpal, Absent tibia, Camp... OMIM:612576
Robin Sequence With Cleft Mandible And Limb Anomalies
Short tibia, Hip subluxation, Short phalanx of finger, Short 5th finger, Micrognathia, Hip disloc... OMIM:268305
Cln5 Disease
Hyperactivity, Inability to walk, Dysdiadochokinesis, Truncal ataxia, EEG with focal spikes, Mult... ORPHA:228360
8p23.1 deletion syndrome
Atrioventricular canal defect, Hyperactivity, Abnormal heart morphology, Atrial septal defect DECIPHER:39
Ataxia With Vitamin E Deficiency
Abnormality of central somatosensory evoked potentials, Dysdiadochokinesis, Gait disturbance, Ata... OMIM:277460
Gaisböck Syndrome
Hyperuricemia, Increased circulating renin level, Diabetes mellitus, Hypercholesterolemia, Hyperp... ORPHA:90041
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypermethioninemia, Hyperbilirubinemia, Hypertyrosinemia, Hypoglycemia, Conjugated hyperbilirubin... OMIM:617156
Juvenile Huntington Disease
Gait ataxia, Hyperactivity, Ataxia, Dementia, Progressive cerebellar ataxia, Dystonia, Broad-base... ORPHA:248111
Secondary Intestinal Lymphangiectasia
Decreased prealbumin level, Secondary hyperaldosteronism, Reduced circulating transferrin concent... ORPHA:90363
Kaufman Oculocerebrofacial Syndrome
Ventricular septal defect, Micrognathia, Clinodactyly of the 5th finger, Atrial septal defect, Me... OMIM:244450
Tay-Sachs Disease
Increased serum beta-hexosaminidase, Exaggerated startle response, Ankle clonus, Memory impairmen... ORPHA:845
Hypophosphatemic Rickets, X-Linked Dominant
Abnormal circulating calcium concentration, Trapezoidal distal femoral condyles, Genu valgum, Met... OMIM:307800
Laurin-Sandrow Syndrome
Triphalangeal thumb, Broad foot, Patellar aplasia, Absent tibia, Hand polydactyly, Syndactyly, Ab... OMIM:135750
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Toe syndactyly, Aplasia/hypoplasia of the femur, Postaxial hand polydactyly, Talipes equinovarus,... OMIM:228930
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Short tibia, Coxa valga, Micrognathia, Epiphyseal stippling, Camptodactyly, Metatarsus adductus, ... ORPHA:96334
Hemophagocytic Syndrome Associated With An Infection
Hypertriglyceridemia, Hyperproteinemia, Increased circulating ferritin concentration, Ataxia ORPHA:158048
Juvenile Polyposis Syndrome
Clubbing, Hypokalemia, Hypoalbuminemia OMIM:174900
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Decreased prealbumin level, Type I diabetes mellitus, Abnormal blood ion concentration, Hypocalce... ORPHA:37042
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response, Optic atrophy, Calf muscle hypertrophy, Dilated cardiomyopathy, Atr... OMIM:253800
Abcd Syndrome
Total intestinal aganglionosis, Aganglionic megacolon, Abnormal auditory evoked potentials, Hypop... OMIM:600501
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Pedal edema, Hyperlipidemia, Hypoalbuminemia ORPHA:567546
Adult Krabbe Disease
EEG abnormality, Gait disturbance, Ataxia, Pes cavus, Progressive neurologic deterioration, Menta... ORPHA:206448
Cockayne Syndrome Type 1
Pigmentary retinopathy, Foot joint contracture, Macrotia, Abnormality of peripheral nerve conduct... ORPHA:90321
Hepatocellular Carcinoma
Pedal edema, Type II diabetes mellitus, Hypokalemia, Hyperbilirubinemia, Hypoglycemia, Hypercalce... ORPHA:88673
Dubowitz Syndrome
Hyperactivity, Rod-cone dystrophy, Micrognathia, Clinodactyly of the 5th finger, Pes planus, Synd... OMIM:223370
Multiple Myeloma
Osteopenia, Elevated circulating creatinine concentration, Hyperproteinemia, Hypercalcemia ORPHA:29073
Biliary, Renal, Neurologic, And Skeletal Syndrome
Broad first metatarsal, Atrioventricular canal defect, Polydactyly, Unbalanced atrioventricular c... OMIM:619534
19P13.12 Microdeletion Syndrome
Hyperactivity, Conductive hearing impairment, Sensorineural hearing impairment, Ventricular septa... ORPHA:254346
Infantile Neuroaxonal Dystrophy
Hyperactivity, Abnormality of peripheral nerve conduction, Optic atrophy, Abnormal autonomic nerv... ORPHA:35069
Orofaciodigital Syndrome Type 2
Short tibia, Atrioventricular canal defect, Broad first metatarsal, Conductive hearing impairment... ORPHA:2751
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Disproportionate shortening of the tibia, Preaxial hand polydactyly, Ventricular septal defect, S... OMIM:263520
Acrodysostosis 2 With Or Without Hormone Resistance
Short phalanx of finger, Hyperactivity, Advanced ossification of carpal bones, Short metacarpal, ... OMIM:614613
Acromelic Frontonasal Dysostosis
Short tibia, Polydactyly, Patellar hypoplasia, Preaxial foot polydactyly, Optic nerve hypoplasia,... OMIM:603671
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Patellar aplasia, Hand monodactyly, Absent tibia, Split foot, Short hallux, Split hand, Aplasia o... OMIM:119100
Rajab Interstitial Lung Disease With Brain Calcifications 1
Thin bony cortex, Unconjugated hyperbilirubinemia, Rickets, Hypoglycemia, Osteopenia, Reduced bon... OMIM:613658
Late Infantile Neuronal Ceroid Lipofuscinosis
EEG with generalized slow activity grade 4, Hyperactivity, EEG with series of focal spikes, Inabi... ORPHA:168491
Multiple Epiphyseal Dysplasia, Lowry Type
Knee flexion contracture, Genu valgum, Rhizomelia, Micrognathia, Fragmented epiphyses, Epiphyseal... ORPHA:166016
Laurin-Sandrow Syndrome
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Preaxial hand polydactyly, Limb duplication... ORPHA:2378
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormal auditory evoked potentials, Optic disc pallor, Broad finger OMIM:617523
Myoclonic-Astatic Epilepsy
Hyperactivity, EEG with polyspike wave complexes, Interictal epileptiform activity, Ataxia, EEG w... ORPHA:1942
Hypophosphatemic Rickets, X-Linked Recessive
Thin bony cortex, Metaphyseal irregularity, Bulging epiphyses, Osteomalacia, Hypophosphatemia, Ti... OMIM:300554
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Palmoplantar keratoderma, Craniosynostosis, Hypoalbuminemia ORPHA:79396
X-Linked Cerebral Adrenoleukodystrophy
Hyperactivity, Ankle clonus, Inability to walk, Decreased circulating cortisol level, Gait distur... ORPHA:139396
Omodysplasia 1
Short tibia, Limited knee flexion/extension, Anterolateral radial head dislocation, Ventricular s... OMIM:258315
Transient neonatal diabetes mellitus, Retinopathy, Diabetic ketoacidosis, Glycosuria, Glucose int... ORPHA:552
Chromosome 2Q37 Deletion Syndrome
Subvalvular aortic stenosis, Short phalanx of finger, Hyperactivity, Short toe, Sensorineural hea... OMIM:600430
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Hyperactivity, Absent thumb, EEG with burst suppression, Hypsarrhythmia, Atrial septal defect, Pu... OMIM:619239
Leukodystrophy, Hypomyelinating, 13
Ataxia, Prolonged brainstem auditory evoked potentials, Exaggerated startle response, Optic atrophy OMIM:616881
Seckel Syndrome 10
Ventricular hypertrophy, Cone-shaped epiphysis, Impaired glucose tolerance, Glycosuria, Slender l... OMIM:617253
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Patellar hypoplasia, Bilateral talipes equinovarus, Preaxial foot polydactyly, Absent tibia, Mirr... OMIM:119800
Infantile Krabbe Disease
Ankle clonus, Opisthotonus, Optic atrophy, Psychomotor deterioration, Decreased nerve conduction ... ORPHA:206436
Arthrogryposis, Distal, Type 2A
Knee flexion contracture, Hip contracture, Flexion contracture of toe, Abnormal auditory evoked p... OMIM:193700
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Coxa valga, Sensorineural hearing impairment, Abnormal cardiac septum morphology, Pat... ORPHA:3320
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Hip dislocation, Sensorineural hearing impairment, Coxa valga OMIM:109120
Atelosteogenesis Type Iii
Short tibia, Patellar dislocation, Vertebral hypoplasia, Short tubular bones of the hand, Microgn... ORPHA:56305
Dyggve-Melchior-Clausen Disease
Hypoplastic acetabulae, Inability to walk, Difficulty walking, Abnormality of the ankle, Hearing ... ORPHA:239
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Cone-shaped epiphysis, Postaxial polydactyly, Short ribs, Short long bone, Absent tibia, Short di... OMIM:613091
Acromesomelic Dysplasia 2B
Short phalanx of finger, Deviation of finger, Malaligned carpal bone, Patellar dislocation, Rhizo... OMIM:228900
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response, Ankle clonus, Optic atrophy, Inability to walk, Pes cavus, Absent A... OMIM:609541
Primary Sclerosing Cholangitis
Osteopenia, Osteoporosis, Type I diabetes mellitus, Hypoalbuminemia ORPHA:171
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response, Attention deficit hyperactivity disorder OMIM:617028
Stankiewicz-Isidor Syndrome
2-3 toe syndactyly, Hyperactivity, Absent thumb, Truncus arteriosus, Ventricular septal defect, M... OMIM:617516
Occipital Horn Syndrome
Coxa valga, Large iliac wing, Hip dislocation, Osteolysis, Dysphagia, Short palm, Aplasia/hypopla... ORPHA:198
Tangier Disease
Coronary artery stenosis, Left ventricular hypertrophy, Facial diplegia, Hypocholesterolemia, Hyp... ORPHA:31150
Marburg Hemorrhagic Fever
Hypokalemia, Elevated circulating creatine kinase concentration, Pericarditis, Hypoglycemia, Hype... ORPHA:99826
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Shoulder dislocation, Genu varum, Conductive hearing impairment, Aplasia/Hypoplasia of the thumb,... OMIM:171480
Retinal hemorrhage, Chorioretinitis, Pericarditis, Optic neuritis, Hyperproteinemia, Papilledema,... ORPHA:509
Trisomy 10P
Short toe, Contracture of thumb, Macrotia, Low voltage EEG, EEG with burst suppression, EEG with ... ORPHA:171929
X-Linked Creatine Transporter Deficiency
Hyperactivity, Aganglionic megacolon, Ataxia, Abnormal circulating creatine concentration, Atheto... ORPHA:52503
Cockayne Syndrome A
Hypoplastic iliac wing, Sensorineural hearing impairment, Hip contracture, Optic atrophy, Retinal... OMIM:216400
Faciocardiomelic Dysplasia, Lethal
Short 5th finger, Hypoplasia of the radius, Micrognathia, Hypoplasia of the ulna, Talipes, Short ... OMIM:227270
Juvenile Polyposis Syndrome
Low-set ears, Hypoproteinemia, Clubbing of fingers ORPHA:2929
Spastic Paraplegia 29, Autosomal Dominant
Pes cavus, Hyperactivity, Neonatal hyperbilirubinemia, Sensorineural hearing impairment OMIM:609727
Mucopolysaccharidosis, Type Iiib
Hyperactivity, Asymmetric septal hypertrophy, Dense calvaria, Progressive neurologic deterioratio... OMIM:252920
Mucopolysaccharidosis, Type Iiic
Hyperactivity, Rod-cone dystrophy, Motor deterioration, Asymmetric septal hypertrophy, Dense calv... OMIM:252930
Microphthalmia With Limb Anomalies
Foot oligodactyly, Capitate-hamate fusion, 2-5 toe syndactyly, Toe syndactyly, Talipes equinovaru... OMIM:206920
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the tibia, Aplasia/Hypoplasia of the thumb, Patellar aplasia, Synostosis of... ORPHA:988
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response, Optic atrophy, Hyporeflexia of lower limbs, Pes cavus, Difficulty w... ORPHA:320406
Mesomelic Dysplasia, Savarirayan Type
Metatarsus valgus, Broad tibial metaphyses, Flared radial metaphysis, Hip dislocation, Narrow ili... ORPHA:85170
Plaa-Associated Neurodevelopmental Disorder
Exaggerated startle response, Sensorineural hearing impairment, Optic atrophy, Hyperextensibility... ORPHA:521426
Mucopolysaccharidosis Type 3
Conductive hearing impairment, Optic atrophy, Abnormality of the middle ear ossicles, Dysphagia, ... ORPHA:581
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Hand monodactyly, Absent tibia, Bifid femur, Aplasia of the ulna, Split hand, Foot monodactyly OMIM:228250
Sensorineural hearing impairment, Optic atrophy, Absent brainstem auditory responses, Left ventri... ORPHA:79330
X-Linked Adrenoleukodystrophy
Hyperactivity, Cognitive impairment, Progressive hearing impairment, Gait disturbance, Dementia, ... ORPHA:43
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hyperactivity, EEG with generalized epileptiform discharges, EEG with focal spikes, Interictal ep... ORPHA:163681
Fibrochondrogenesis 1
Patent foramen ovale, Dumbbell-shaped long bone, Short foot, Rhizomelia, Short ribs, Short long b... OMIM:228520
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response, Hip contracture, Optic atrophy, Hip dislocation, Overlapping toe, D... OMIM:617301
Neurodegeneration With Brain Iron Accumulation 2B
Gait ataxia, Talipes calcaneovalgus, Hyperactivity, Dysdiadochokinesis, Optic atrophy, Dysmetria,... OMIM:610217
Acromesomelic Dysplasia 3
Aplasia of the proximal phalanx of the 2nd finger, Broad foot, Short phalanx of finger, Short toe... OMIM:609441
Atelosteogenesis, Type I
Vertebral hypoplasia, Micrognathia, Distal tapering femur, Short femur, Limb undergrowth, Knee di... OMIM:108720
Hyperlysinemia, Hyperactivity, Hypoornithinemia, Hypoplastic helices, Tip-toe gait, Dysmetria, Hy... ORPHA:2203
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Synostosis of carpal bones, Ulnar deviation of finger, Hypoplasia of the ulna, Abnormal morpholog... ORPHA:2634
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Short phalanx of finger, Hypoplastic iliac wing, Metaphyseal irregularity, Short ribs, Foot polyd... OMIM:208500
Gm1 Gangliosidosis Type 1
Broad long bone diaphyses, Macrotia, Exaggerated startle response, Short long bone, Flattened fem... ORPHA:79255
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Rocker bottom foot, Exaggerated startle response, Cognitive impairment, Optic atrophy, Micrognath... OMIM:617527
Tropical Endomyocardial Fibrosis
Pedal edema, Restrictive cardiomyopathy, Coronary artery stenosis, Right ventricular cardiomyopat... ORPHA:75565
Stiff Person Spectrum Disorder
Diabetes mellitus, Exaggerated startle response, Falls, Difficulty walking ORPHA:3198
Immunodeficiency 82 With Systemic Inflammation
Osteomalacia, Cholesteatoma, Elevated circulating C-reactive protein concentration, Hypernatremia... OMIM:619381
Mucopolysaccharidosis Type 2
Conductive hearing impairment, Retinopathy, Optic atrophy, Papilledema, Abnormal mitral valve mor... ORPHA:580
Cockayne Syndrome B
Hypoplastic iliac wing, Pigmentary retinopathy, Sensorineural hearing impairment, Optic atrophy, ... OMIM:133540
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response, Ankle clonus, Ataxia, Overlapping toe, Low-set ears, Posteriorly ro... OMIM:618598
Insulin-Like Growth Factor I Deficiency
Hyperactivity, Sensorineural hearing impairment, Micrognathia, Clinodactyly of the 5th finger, Os... OMIM:608747
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Gait ataxia, Exaggerated startle response, Clinodactyly of the 5th finger, Agitation, Truncal tit... OMIM:618056
Sandhoff Disease
Exaggerated startle response, Ataxia, Orthostatic hypotension, Cardiomegaly, Progressive psychomo... OMIM:268800
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hypokalemia, Hyperactivity, Hypomagnesemia OMIM:618314
Eiken Syndrome
Broad femoral neck, Pseudoepiphyses, Long hallux, Narrow pelvis bone, Flat acetabular roof, Clino... OMIM:600002
Charge Syndrome
Micrognathia, Secundum atrial septal defect, Lop ear, Dysphagia, Bilateral talipes equinovarus, C... OMIM:214800
Tay-Sachs Disease
Exaggerated startle response, Dementia, Psychomotor deterioration, Cherry red spot of the macula OMIM:272800
Gm2 Gangliosidosis, Ab Variant
Cognitive impairment, Exaggerated startle response, Dystonia, Cherry red spot of the macula ORPHA:309246
Acro-Renal-Mandibular Syndrome
Finger syndactyly, Hypoplasia of the radius, Micrognathia, Hip dislocation, Hypoplasia of the uln... ORPHA:958
Hydrolethalus Syndrome 1
Preaxial hand polydactyly, Upper limb undergrowth, Ventricular septal defect, Micrognathia, Proxi... OMIM:236680
Hyperinsulinemia, Macrotia, Rod-cone dystrophy, Pericardial effusion, Insulin resistance, Ataxia,... ORPHA:79318
Purine Nucleoside Phosphorylase Deficiency
Hyperactivity, Sensorineural hearing impairment, Ataxia, Hypouricemia ORPHA:760
Thrombocytopenia-Absent Radius Syndrome
Short phalanx of finger, Atrioventricular canal defect, Absent thumb, Coxa valga, Patellar disloc... OMIM:274000
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Exaggerated startle response, Macrotia, Inability to walk, Optic nerve hypoplasia, EEG with gener... OMIM:617864
Cranioectodermal Dysplasia 1
Short toe, Sagittal craniosynostosis, Rhizomelia, Short ribs, Bicuspid aortic valve, Retinal dyst... OMIM:218330
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Sensorineural hearing impairment, Abnormal autonomic nervous system physiology, Aganglionic megac... OMIM:609136
Omodysplasia 2
Rhizomelic arm shortening, Broad femoral neck, Short 1st metacarpal, Micrognathia, Clinodactyly o... OMIM:164745
Neurodegeneration With Brain Iron Accumulation 1
Hyperactivity, Blepharospasm, Akinesia, Optic atrophy, Abnormal foot morphology, Retinal degenera... OMIM:234200
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Macrotia, Hypoalbuminemia OMIM:614748
Campomelic Dysplasia
11 pairs of ribs, Short long bone, Micrognathia, Hypoplastic inferior ilia, Tibial bowing, Hip di... ORPHA:140
Asparagine Synthetase Deficiency
Exaggerated startle response, Macrotia, EEG with burst suppression, Hypsarrhythmia, Micrognathia,... OMIM:615574
Campomelic Dysplasia
Short phalanx of finger, Conductive hearing impairment, Hallux valgus, Micrognathia, Hip dislocat... OMIM:114290
Hyperthyroidism, Nonautoimmune
Increased circulating thyroglobulin level, Hyperactivity OMIM:609152
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response, EEG with temporal focal spikes ORPHA:163985
Ophthalmomandibulomelic Dysplasia
Coxa valga, Radial bowing, Lateral humeral condyle aplasia, Mesomelia, Fibular hypoplasia OMIM:164900
Aromatic L-Amino Acid Decarboxylase Deficiency
Exaggerated startle response, Blepharospasm, Limb dystonia, Torticollis, Choreoathetosis, Oculogy... OMIM:608643
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response, Hearing impairment, Inability to walk OMIM:620114
Acrodysostosis With Multiple Hormone Resistance
Short phalanx of finger, Short toe, Hyperactivity, Hyperphosphatemia, Short metacarpal, Absent/hy... ORPHA:280651
Early Infantile Epileptic Encephalopathy
Hyperactivity, Ventricular septal defect, EEG abnormality, EEG with burst suppression, Hypsarrhyt... ORPHA:1934
Acrofacial Dysostosis, Rodríguez Type
Finger syndactyly, Microtia, Radioulnar synostosis, Microretrognathia, Abnormal pelvic girdle bon... ORPHA:1788
Legius Syndrome
Polydactyly, Hyperactivity, Diaphyseal dysplasia, Cognitive impairment, Pulmonic stenosis, Mitral... ORPHA:137605
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Patent foramen ovale, Exaggerated startle response, Ventricular septal defect, Inability to walk,... ORPHA:438213
Aplasia of the ulna, Upper limb phocomelia, Absent radius, Abnormal metaphysis morphology, Abnorm... ORPHA:931
Peroneal muscle atrophy, Hyperactivity, Blepharospasm, Falls, Resting tremor, Lingual dystonia, A... ORPHA:2388
Acrorenal-Mandibular Syndrome
Toe syndactyly, Micrognathia, Foot polydactyly, Hypoplasia of the radius, Hip dislocation, Hand p... OMIM:200980
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Sandhoff Disease, Infantile Form
Mitral valve prolapse, Exaggerated startle response, Cherry red spot of the macula ORPHA:309155
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Exaggerated startle response, Ataxia, External ear malformation, Dystonia, Broad-based gait ORPHA:438216
Maternal Phenylketonuria
Double outlet right ventricle, Hyperactivity, Bifid distal phalanx of the thumb, Hypoplastic heli... ORPHA:2209
Tibial Hemimelia
Absent tibia OMIM:275220
Stiff-Person Syndrome
Diabetes mellitus, Exaggerated startle response, Opisthotonus OMIM:184850
Otopalatodigital Syndrome, Type Ii
Conductive hearing impairment, Toe syndactyly, Micrognathia, Broad hallux, Short hallux, Postaxia... OMIM:304120
Osteopathia Striata With Cranial Sclerosis
Paranasal sinus hypoplasia, Conductive hearing impairment, Ventricular septal defect, Microtia, F... OMIM:300373
Acromelic Frontonasal Dysplasia
Preaxial foot polydactyly, Patellar hypoplasia, Aplasia/Hypoplasia of the tibia, Talipes equinovarus ORPHA:1827
Osteofibrous Dysplasia, Susceptibility To
Pseudoarthrosis, Fibular hypoplasia OMIM:607278
Hyperactivity, Hyperammonemia, Hyperargininemia, Spastic gait OMIM:207800
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Dystonia, Dementia OMIM:272750
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Humeroradial synostosis, Aplasia/hypoplasia of the femur, Hip dislocation, Long ear, Phocomelia, ... OMIM:276820
Hyperactivity, Hyperhistidinemia ORPHA:2157
Hyperekplexia 1
Exaggerated startle response, Hip dislocation OMIM:149400
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Small earlobe, Exaggerated startle response, Tapered finger, Ventricular septal defect, Short 5th... OMIM:619522
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Orofaciodigital Syndrome Type 4
Camptodactyly of finger, Genu varum, Aplasia/Hypoplasia of the tibia, Conductive hearing impairme... ORPHA:2753
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Schneckenbecken Dysplasia
Dumbbell-shaped long bone, Hypoplastic ilia, Short ribs, Diaphyseal thickening, 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
Hip subluxation, Patent foramen ovale, Hypoplasia of proximal radius, Conductive hearing impairme... ORPHA:444077
Kinsship Syndrome
Polydactyly, Coxa valga, Micrognathia, Hip dislocation, Dislocated radial head, Osteopenia, Mesom... OMIM:619297


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

There is no histopathology data for Aak1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Aak1.

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

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

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

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