Gene Summary

Name:
AP2 associated kinase 1
Synonyms:
D6Ertd245e,  5530400K14Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Dorso Ventral

16 Images

X-ray

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
phenotypes
Matching phenotypes Source
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Ataxia, Pes cavus, Hypoalbuminemia, Hypercholesterolemia, Steppage gait OMIM:607250
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Ataxia, Loss of ambulation, Limb ataxia, Cognitive impairment, Mental deterioration, Pes cavus, E... OMIM:208920
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Ataxia, Pes cavus, Hypoalbuminemia, Hypercholesterolemia, Distal lower limb muscle weakness, Step... ORPHA:94124
Hyperlysinemia, Type I
Hyperlysinemia, Hyperactivity, Cognitive impairment OMIM:238700
Immunodeficiency 43
Hypoplasia of the ulna, Radial bowing, Hypoalbuminemia, Hypoproteinemia OMIM:241600
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein AI concentration, Hypocholesterolemia, Decreased HDL cholest... OMIM:620058
Citrullinemia Type Ii
Acute hyperammonemia, Hyperlipidemia, Hyperactivity, Hypoproteinemia, Decreased HDL cholesterol c... ORPHA:247585
Alg6-Cdg
Ataxia, Retinal degeneration, Rod-cone dystrophy, Shortening of all distal phalanges of the finge... ORPHA:79320
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the radius, Cone-shaped epiphys... OMIM:607778
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, Cardiomegaly, Craniosynostosis ORPHA:88643
Analbuminemia
Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Osteopor... OMIM:616000
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia, Pedal edema, Stillbirth OMIM:152800
Diarrhea 7, Protein-Losing Enteropathy Type
Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Acromesomelic Dysplasia 2A
Stillbirth, Short femur, Hypoplasia of the radius, Short tibia, Short humerus, Aplasia/Hypoplasia... OMIM:200700
Fibular Hemimelia
Craniosynostosis, Structural foot deformity, Talipes equinovalgus, Arthralgia of the hip, Abnorma... ORPHA:93323
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoalbuminemia, Hypoproteinemia OMIM:600351
Cholestasis, Progressive Familial Intrahepatic, 10
Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypercholesterolemia, ... OMIM:619868
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Sensorineural hearing impairment, Hypoproteinemia OMIM:221400
Trypsinogen Deficiency
Hypoproteinemia OMIM:614044
Chylomicron Retention Disease
Steatorrhea, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hypotriglyceridemia, H... OMIM:246700
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Short femur, Hypoplasia of the radius, Short tibia, Absent ossification of cervical vertebral bod... OMIM:601376
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Gait imbalance, Ataxia, Elevated alpha-fetoprotein, Elevated circulating creatine kinase concentr... ORPHA:64753
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Intention tremor, Osteopenia, Hypocholesterolemia, Erlenmeyer flask deformity of the femurs OMIM:610539
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short tibia, Micromelia, Short 3rd metacarpal, Limb undergrowth, Short 2nd metacarpal, Short 4th ... OMIM:118651
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia OMIM:603278
Nephrotic Syndrome, Type 1
Hyperlipidemia, Hypoalbuminemia, Hypoproteinemia OMIM:256300
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia, Drusen ORPHA:54370
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Ataxia, Hypoproteinemia, Increased LDL cholesterol ... OMIM:267700
Congenital Disorder Of Glycosylation, Type Ij
Tremor, Clinodactyly of the 5th finger, Hypoproteinemia, Micrognathia OMIM:608093
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Syndactyly Type 4
Short tibia, Camptodactyly of finger, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, Foot ... ORPHA:93405
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoglycemia, Hypoalbuminemia OMIM:617156
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Slc35A2-Cdg
Sensorineural hearing impairment, Inability to walk, Talipes equinovarus, Craniosynostosis, EEG w... ORPHA:356961
Acromesomelic Dysplasia 2C
Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short tibia, Shortening of all pr... OMIM:201250
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Atrial septal defect, Hypoproteinemia, Hyperammonemia, Hypoketotic hypoglycemia, El... ORPHA:26793
Insulin-Like Growth Factor I Deficiency
Sensorineural hearing impairment, Hyperactivity, Osteopenia, Micrognathia, Clinodactyly, Radial d... OMIM:608747
Congenital Analbuminemia
Hyperlipidemia, Hypoproteinemia, Increased alpha-globulin, Pedal edema, Hypoalbuminemia, Hypercho... ORPHA:86816
Osebold-Remondini Syndrome
Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Hypoplasia of the radius, Short... OMIM:112910
Refractory Celiac Disease
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Osteoporosis, Hypoalbuminemia ORPHA:398063
Nephrotic Syndrome, Type 11
Arachnodactyly, Micrognathia, Partial duplication of thumb phalanx, Ventricular septal defect, Di... OMIM:616730
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Lethal Faciocardiomelic Dysplasia
Microretrognathia, Hypoplastic left heart, Hypoplasia of the radius, Radial club hand, Short tibi... ORPHA:1972
Nephrotic Syndrome, Type 14
Sensorineural hearing impairment, Ataxia, Mental deterioration, Hypoglycemia, Hypertriglyceridemi... OMIM:617575
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia OMIM:207731
Acromesomelic Dysplasia, Grebe Type
Short toe, Short tibia, Aplasia of the middle phalanges of the toes, Brachydactyly, Micromelia, S... ORPHA:2098
Johanson-Blizzard Syndrome
Sensorineural hearing impairment, Abnormal cardiac septum morphology, Hypoproteinemia, Dextrocard... ORPHA:2315
Encephalopathy, Progressive, With Or Without Lipodystrophy
Ataxia, Hyperactivity, Mental deterioration, Hypertriglyceridemia, Tremor, Dystonia OMIM:615924
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Clubbing of fingers, Hypoalbuminemia, Hypoproteinemia, Clubbing OMIM:226300
Congenital Disorder Of Glycosylation, Type Ig
Sensorineural hearing impairment, Abnormal pinna morphology, Hypocalcemia, Talipes equinovarus, S... OMIM:607143
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Léri-Weill Dyschondrosteosis
Abnormality of femur morphology, Hypoplasia of the radius, Cone-shaped epiphysis, Micromelia, Abn... ORPHA:240
Triokinase And Fmn Cyclase Deficiency Syndrome
Broad-based gait, Dilated cardiomyopathy, Hypoalbuminemia OMIM:618805
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Leri-Weill Dyschondrosteosis
Short toe, Tibial bowing, Abnormal femoral neck morphology, Radial bowing, Coxa valga, Hypoplasia... OMIM:127300
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Hyperlipidemia, Osteoporosis, Impaired glucose tolerance, Hypertriglyceridem... OMIM:610947
Maternal Uniparental Disomy Of Chromosome 4
Sensorineural hearing impairment, Ataxia, Rod-cone dystrophy, Dysmetria, Abetalipoproteinemia, El... ORPHA:96180
Ménétrier Disease
Hypoalbuminemia, Hypoproteinemia ORPHA:2494
Fibronectin Glomerulopathy
Pedal edema, Hypoalbuminemia ORPHA:84090
Mohr-Tranebjaerg Syndrome
Sensorineural hearing impairment, Absent brainstem auditory responses, Postlingual sensorineural ... ORPHA:52368
Potocki-Lupski Syndrome
EEG abnormality, Hyperactivity, Atrial septal defect, Micrognathia, Hypocholesterolemia, Patent f... OMIM:610883
Squalene Synthase Deficiency
Bicuspid aortic valve, 2-3 toe syndactyly, Optic nerve hypoplasia, Micrognathia, Low-set, posteri... OMIM:618156
Chédiak-Higashi Syndrome
Increased circulating ferritin concentration, Ataxia, Abnormality of retinal pigmentation, Inabil... ORPHA:167
Peroxisome Biogenesis Disorder 3B
Sensorineural hearing impairment, Rod-cone dystrophy, Steatorrhea, Osteoporosis, Retinal dystroph... OMIM:266510
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Alg1-Cdg
Cardiomyopathy, Hypoalbuminemia, Abnormal heart morphology ORPHA:79327
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Ataxia, Hypoproteinemia, Hypertriglyceridemia, Incr... OMIM:603553
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Clubbing, Hypoalbuminemia, Periostosis, Hyperostosis OMIM:614441
Nephrotic Syndrome, Type 8
Sensorineural hearing impairment, Hypoalbuminemia OMIM:615244
Congenital Disorder Of Glycosylation, Type Ih
Talipes equinovarus, Neonatal death, Camptodactyly, Elevated circulating creatinine concentration... OMIM:608104
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypocalcemia, Hypoproteinemia, Micrognathia, Postaxial hand polydactyly, Ventricular septal defec... OMIM:235255
Galloway-Mowat Syndrome 6
Clinodactyly of the 5th finger, Hypoalbuminemia OMIM:618347
Short Rib-Polydactyly Syndrome
Cone-shaped epiphysis, Micromelia, Bowing of the long bones, Short long bone, Abnormal heart morp... ORPHA:1505
Primary Intestinal Lymphangiectasia
Hypomagnesemia, Hypocalcemia, Hypoproteinemia, Hypoalbuminemia, Pericardial effusion ORPHA:90362
Rajab Interstitial Lung Disease With Brain Calcifications 2
Arachnodactyly, Hypertriglyceridemia, Hypoalbuminemia OMIM:619013
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Sensorineural hearing impairment, Conductive hearing impairment, Hyperactivity, Talipes equinovar... OMIM:235510
Omenn Syndrome
Hypoproteinemia OMIM:603554
Hypobetalipoproteinemia, Familial, 1
Ataxia, Retinal degeneration, Rod-cone dystrophy, Steatorrhea, Decreased HDL cholesterol concentr... OMIM:615558
Dengue Fever
Hypoproteinemia ORPHA:99828
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy... ORPHA:103910
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Langer Mesomelic Dysplasia
Radial bowing, Hypoplasia of the radius, Micrognathia, Broad ulna, Short tibia, Rudimentary fibul... OMIM:249700
Immunodeficiency 27A
Hypoplasia of the femoral head, Hypoalbuminemia OMIM:209950
Abetalipoproteinemia
Ataxia, Steatorrhea, Osteopenia, Cardiomegaly, Hypopigmentation of the fundus, Broad-based gait, ... ORPHA:14
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... OMIM:616050
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Low-set ears, EEG abnormality, Hyperactivity ORPHA:436151
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Combined Oxidative Phosphorylation Deficiency 37
Sensorineural hearing impairment, Chorioretinal hyperpigmentation, Progressive neurologic deterio... OMIM:618329
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Talipes equinovarus, Abnormal auditory evoked potentia... OMIM:601382
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Alg12-Cdg
Sensorineural hearing impairment, Abnormal pinna morphology, Abnormal bone ossification, Clinodac... ORPHA:79324
Hyperprolinemia, Type I
Hyperprolinemia, EEG abnormality, Hyperactivity, Ataxia OMIM:239500
Wolcott-Rallison Syndrome
Double outlet right ventricle, Metaphyseal dysplasia, Atrial septal defect, Hyperbilirubinemia, H... ORPHA:1667
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Congenital Disorder Of Glycosylation, Type Ia
Ataxia, Rod-cone dystrophy, Steatorrhea, Dysmetria, Osteopenia, Intention tremor, Tremor, Hypocho... OMIM:212065
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypocalcemia, Hypoproteinemia, Micrognathia, Postaxial hand polydactyly, Ventricular septal defec... ORPHA:1655
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated circulating creatine kinase concentration, Cardiomyopathy, Dilated cardiomyopathy, Hypop... OMIM:615895
S-Adenosylhomocysteine Hydrolase Deficiency
Elevated circulating creatine kinase concentration, Abnormal circulating methionine concentration... ORPHA:88618
Mucopolysaccharidosis-Plus Syndrome
Inability to walk, Atrial septal defect, Flared iliac wing, Metaphyseal widening, Chorioretinal h... OMIM:617303
Mpi-Cdg
Hyperinsulinemic hypoglycemia, Hypoalbuminemia ORPHA:79319
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Sensorineural hearing impairment, Hypoalbuminemia, Decreased circulating copper concentration, Pa... OMIM:242150
Saccharopinuria
Hyperlysinemia, Hyperammonemia, Mental deterioration, Cognitive impairment, Tremor, Abnormality o... ORPHA:3124
Insulin-Resistance Syndrome Type B
Postprandial hyperglycemia, Glucose intolerance, Hyperinsulinemia, Type II diabetes mellitus, Abn... ORPHA:2298
Ravine Syndrome
Ataxia, Abnormal auditory evoked potentials ORPHA:99852
Autosomal Dominant Optic Atrophy Plus Syndrome
Sensorineural hearing impairment, Absent brainstem auditory responses, Ataxia, Pes cavus, Tempora... ORPHA:1215
Acheiropody
Aplasia of the ulna, Absent hand, Short tibia, Lower limb peromelia, Carpal bone aplasia, Short h... OMIM:200500
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Absent thumb, Short femur, Short tibia, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius,... OMIM:612447
Acrofacial Dysostosis Syndrome Of Rodriguez
Overlapping toe, Talipes equinovarus, Micrognathia, Short tibia, 11 pairs of ribs, Triphalangeal ... OMIM:201170
Orofaciodigital Syndrome Type 10
Mesomelic leg shortening, Short toe, Hypoplasia of proximal radius, Preaxial polydactyly, Microgn... ORPHA:2756
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Hypernatremia, Hypoalbuminemia, Abnormal auditory evoked potent... ORPHA:529799
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Hypernatremia, Hypoalbuminemia, Abnormal auditory evoked potent... ORPHA:529808
Orofaciodigital Syndrome Viii
Short tibia, Syndactyly, Polydactyly OMIM:300484
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, Absent brainstem auditory responses, Ankle flexion contracture,... OMIM:617519
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentra... ORPHA:567548
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
Aicardi-Goutieres Syndrome 9
Chorioretinal atrophy, Left ventricular hypertrophy, Osteoporosis, Optic atrophy, Pericardial eff... OMIM:619487
Tibial Hemimelia
Radial club hand, Aplasia of the 2nd metacarpal, Talipes equinovarus, Absent hallux, Polydactyly,... ORPHA:93322
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Hypoplasia of the radius, Short tibia, Pseudoarthrosis OMIM:156230
Lymphoproliferative Syndrome, X-Linked, 1
Elevated circulating C-reactive protein concentration, Hypoalbuminemia OMIM:308240
Congenital Disorder Of Glycosylation, Type Ib
Hyperinsulinemic hypoglycemia, Hypoalbuminemia, Steatorrhea OMIM:602579
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Tibial bowing, Hand oligodactyly, Short tibia, Syndactyly, Foot oligodactyly, Fibular aplasia OMIM:246570
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Ataxia, Optic atrophy, Gait disturbance, Abnormal auditory evoked potentials, Progressive sensori... OMIM:125250
Leigh Syndrome With Nephrotic Syndrome
EEG with focal spikes, Hypoalbuminemia, Cardiomegaly ORPHA:255249
Optic Atrophy 8
Sensorineural hearing impairment, Prolonged somatosensory evoked potentials, Optic atrophy, Mitra... OMIM:616648
Eiken Syndrome
Delayed epiphyseal ossification, Epiphyseal dysplasia, Abnormal bone ossification, Metaphyseal ir... ORPHA:79106
Stuve-Wiedemann Syndrome 1
Femoral bowing, Ulnar deviation of finger, Contracture of the proximal interphalangeal joint of t... OMIM:601559
Leishmaniasis
Hypoalbuminemia ORPHA:507
Wilson Disease
Increased circulating copper concentration, Hyperbilirubinemia, Decreased nerve conduction veloci... OMIM:277900
Al Amyloidosis
Abnormal cardiac ventricle morphology, Autonomic erectile dysfunction, Abnormal autonomic nervous... ORPHA:85443
Severe Neurodegenerative Syndrome With Lipodystrophy
Ataxia, Hyperinsulinemia, Hyperactivity, Progressive psychomotor deterioration, Cognitive impairm... ORPHA:363400
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Ataxia, Abnormal motor evoked potentials, Pes cavus, Difficulty... ORPHA:320401
Eosinophilic Gastroenteritis
Elevated circulating C-reactive protein concentration, Hypoalbuminemia, Steatorrhea ORPHA:2070
Intellectual Developmental Disorder, X-Linked 101
Optic atrophy, Hyperactivity, Clinodactyly, Macrotia OMIM:300928
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoglycemia, Hyperbilirubinemia, Hypoalbuminemia OMIM:251880
Late-Infantile/Juvenile Krabbe Disease
EEG with persistent abnormal rhythmic activity, Ataxia, Loss of ambulation, Decreased nerve condu... ORPHA:206443
Endove Syndrome, Limb-Only Type
Aplasia of the distal phalanges of the toes, Short middle phalanx of the 2nd finger, Cutaneous sy... OMIM:619217
Mesomelic Dysplasia, Savarirayan Type
Dislocated radial head, Short tibia, Talipes equinovalgus, Mesomelia, Abnormal foot morphology, H... OMIM:605274
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased LDL cholesterol concentration, Hypocholesterolemia, Decreased HDL cholesterol concentra... OMIM:616834
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Elevated circulating creatine kinase concentration, Neonatal death, Hypoglycemia, Hypoalbuminemia... OMIM:619055
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hyperlysinemia, Hyperbilirubinemia, Increased LDL cholesterol concentration, Abnormal circulating... ORPHA:247598
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Hypertriglyceridemia, Elevated circulating C-reacti... ORPHA:158061
Hepatoportal Sclerosis
Cognitive impairment, Hyperbilirubinemia, Hypoalbuminemia ORPHA:64743
Myopathy With Extrapyramidal Signs
Extremely elevated creatine kinase, Ataxia, Hyperlysinemia, Hypervalinemia, Hyperactivity, Calf m... OMIM:615673
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Abnormal cardiomyocyte morphology, Dilated cardiomyopathy, Hypoalbuminemia ORPHA:367
Congenital Enterovirus Infection
Hyperammonemia, Myocarditis, Cardiomyopathy, Hypoalbuminemia, Pericardial effusion ORPHA:292
Intellectual Developmental Disorder, X-Linked 104
Abnormal pinna morphology, Ataxia, Hyperactivity, Optic atrophy, Tremor OMIM:300983
Pierson Syndrome
Remnants of the hyaloid vascular system, Hypoproteinemia, Retinal detachment, Retinal hemorrhage,... OMIM:609049
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity, Talipes equinovarus, Small hand, Short foot, Hip dislocation OMIM:300434
Galloway-Mowat Syndrome 1
Ataxia, Talipes equinovarus, Slender finger, Micrognathia, Pes cavus, Camptodactyly, Optic atroph... OMIM:251300
Microcephaly-Micromelia Syndrome
Forearm undergrowth, Talipes equinovarus, Craniosynostosis, Micrognathia, Short tibia, Micromelia... OMIM:251230
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Ataxia, Hyperactivity, Tremor, Transient hyperphenylalaninemia, Choreoathetosis, Dystonia OMIM:612716
Smith-Magenis Syndrome
EEG abnormality, Hyperactivity, Retinal detachment, Brachydactyly, Hypertriglyceridemia, Pes plan... OMIM:182290
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hypertriglyceridemia, Sensorineural hearing impairm... ORPHA:540
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Sensorineural hearing impairment, Congenital sensorineural hearing impairment, Clinodactyly of th... ORPHA:73272
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia ORPHA:656
Refractory Anemia With Excess Blasts
Abnormal circulating albumin concentration, Abnormal circulating protein concentration, Pedal ede... ORPHA:86839
Liver Failure, Infantile, Transient
Hyperbilirubinemia, Hypoalbuminemia OMIM:613070
Landau-Kleffner Syndrome
EEG with frontal focal spikes, Social and occupational deterioration, Hyperactivity, Continuous s... ORPHA:98818
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Sensorineural hearing impairment, Ataxia, Retinal degeneration, Attenuation of retinal blood vess... OMIM:619260
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Craniosynostosis, Overfolded helix, Hypoplasia of the radius, Hypoplasia of the ulna, Talipes equ... OMIM:609945
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Optic atrophy, Tremor, Broad-based gait, Hyperactivity OMIM:619470
Orofaciodigital Syndrome Iv
Postaxial polydactyly, Micrognathia, Short tibia, Brachydactyly, Short finger, Clinodactyly, Hand... OMIM:258860
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Preaxial polydactyly, Short tibia, Triphalangeal thumb, Fibular duplication, Absent tibia OMIM:188740
Xfe Progeroid Syndrome
Pes cavus, Attenuation of retinal blood vessels, Optic atrophy, Hypoalbuminemia, Hearing impairment OMIM:610965
Avian Influenza
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... ORPHA:454836
Lennox-Gastaut Syndrome
EEG abnormality, Hyperactivity, Mental deterioration, Falls, EEG with focal sharp slow waves ORPHA:2382
Orofaciodigital Syndrome Ix
Retinal coloboma, Short tibia, Camptodactyly, Hand polydactyly, Toe syndactyly OMIM:258865
Smith-Lemli-Opitz Syndrome
Micromelia, Hammertoe, Ventricular septal defect, Hip subluxation, Epiphyseal stippling, Hyperact... OMIM:270400
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Micrognathia, Hypocholesterolemia, Hypertrophic cardiomyopathy, Neonatal death OMIM:618810
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Upper limb metaphyseal widening, Humerus varus, Thin bony cortex, Hypoplasia of the u... ORPHA:85188
Trichohepatoenteric Syndrome 1
Microtia, Cognitive impairment, Pulmonic stenosis, Avascular necrosis of the capital femoral epip... OMIM:222470
Glycine Encephalopathy
Hyperglycinemia, Hyperactivity OMIM:605899
Diarrhea 10, Protein-Losing Enteropathy Type
Hypomagnesemia, Hypocalcemia, Hypertriglyceridemia, Hypoalbuminemia, Hyponatremia, Low-set ears, ... OMIM:618183
Microphthalmia With Limb Anomalies
Optic atrophy, Sandal gap, Bowing of the long bones, Short long bone, Large earlobe, Clinodactyly... ORPHA:1106
Liver Disease, Severe Congenital
Increased circulating ferritin concentration, Hypocalcemia, Hyperinsulinemic hypoglycemia, Hyperb... OMIM:619991
Charcot-Marie-Tooth Disease, Type 4C
Talipes equinovarus, Decreased motor nerve conduction velocity, Facial palsy, Pes cavus, Hammerto... OMIM:601596
Morm Syndrome
Hyperactivity, Retinal atrophy, Retinal dystrophy ORPHA:75858
Rasmussen Subacute Encephalitis
EEG with focal spikes, Inability to walk, Hyperactivity, Continuous spike and waves during slow s... ORPHA:1929
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Delayed epiphyseal ossification, Sparse bone trabeculae, Hypophosphatemia, Metaphyseal irregulari... OMIM:600081
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Hyperactivity, Dysmetria, Gait disturbance, Tremor OMIM:618090
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Abnormality of retinal pigmentation, Inability to walk, Atrial septal defect, Optic atrophy, Hypo... ORPHA:505248
Cerebrotendinous Xanthomatosis
Abnormality of femur morphology, Ataxia, Hypermyelinated retinal nerve fibers, Osteopenia, Abnorm... ORPHA:909
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Gait disturbance, Abnormal auditory evoked potentials, Heari... OMIM:601455
Bile Acid Synthesis Defect, Congenital, 1
Hypocholesterolemia, Hyperbilirubinemia, Rickets, Steatorrhea OMIM:607765
Acrocraniofacial Dysostosis
Sensorineural hearing impairment, Conductive hearing impairment, Craniosynostosis, Short 1st meta... OMIM:201050
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Ataxia, Hyperactivity, Hypsarrhythmia OMIM:617113
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia of the tibia, Hand monodactyly, ... ORPHA:1986
Amoebiasis Due To Entamoeba Histolytica
Constrictive pericarditis, Hypoalbuminemia, Abnormal pericardium morphology ORPHA:67
Galloway-Mowat Syndrome 3
Arachnodactyly, Micrognathia, Camptodactyly, Hypoalbuminemia, Hip dislocation, Low-set ears OMIM:617729
Dyschondrosteosis And Nephritis
Ulnar bowing, Short tibia, Radial bowing, Short forearm OMIM:127350
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Increased circulating ferritin concentration, Absent brainstem auditory responses, Head titubatio... ORPHA:3240
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Orthostatic hypotension, Osteoporosis, Conjugated hyper... ORPHA:186
Bacterial Toxic-Shock Syndrome
Hypocalcemia, Elevated circulating creatine kinase concentration, Myocarditis, Elevated circulati... ORPHA:36234
Cln5 Disease
EEG with focal spikes, Ataxia, Inability to walk, Hyperactivity, EEG with spike-wave complexes, D... ORPHA:228360
Charcot-Marie-Tooth Disease Type 1F
Sensorineural hearing impairment, Absent brainstem auditory responses, Inability to walk, Decreas... ORPHA:101085
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Ectrodactyly, Aplasia/Hypoplasia... ORPHA:3329
Multiple Epiphyseal Dysplasia With Robin Phenotype
Dislocated radial head, Coxa vara, Talipes equinovarus, Flat capital femoral epiphysis, Short fem... OMIM:601560
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Rickets of the lower limbs, Delayed epiphyseal ossification, Sparse bone trabeculae, Metaphyseal ... OMIM:600785
Femoral-Facial Syndrome
Coxa vara, Talipes equinovarus, Aplasia/Hypoplasia of the tibia, Microtia, Short femur, Micrognat... ORPHA:1988
Juvenile Polyposis Of Infancy
Atrial septal defect, Clubbing of fingers, Broad thumb, Midclavicular hypoplasia, Hypoalbuminemia... ORPHA:79076
Mend Syndrome
Overlapping toe, 2-3 toe syndactyly, Hyperactivity, Aortic valve stenosis, Micrognathia, Overlapp... ORPHA:401973
Robin Sequence With Cleft Mandible And Limb Anomalies
Hypoplasia of the radius, Hip subluxation, Clinodactyly of the 5th finger, Talipes equinovarus, M... OMIM:268305
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Abnormal pinna morphology, Narrow greater sciatic notch, Microtia, Short ribs, Micrognathia, Decr... OMIM:617925
Adult-Onset Autosomal Dominant Leukodystrophy
Sensorineural hearing impairment, Ataxia, Action tremor, Abnormal autonomic nervous system physio... ORPHA:99027
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Abnormal circulating selenium concentration, Decreased serum iron, Decreased plasma carnitine, Di... ORPHA:89842
Succinic Semialdehyde Dehydrogenase Deficiency
Ataxia, EEG abnormality, Hyperactivity, Elevated circulating gamma-aminobutyric acid concentration OMIM:271980
8p23.1 deletion syndrome
Abnormal heart morphology, Atrioventricular canal defect, Hyperactivity, Atrial septal defect DECIPHER:39
Gaisböck Syndrome
Hyperproteinemia, Increased circulating renin level, Hypertriglyceridemia, Hyperuricemia, Hyperch... ORPHA:90041
Juvenile Huntington Disease
Broad-based gait, Ataxia, Progressive cerebellar ataxia, Hyperactivity, Gait ataxia, Dystonia, De... ORPHA:248111
Ataxia With Vitamin E Deficiency
Ataxia, Progressive cerebellar ataxia, Increased LDL cholesterol concentration, Dysmetria, Abnorm... OMIM:277460
Chylomicron Retention Disease
Retinopathy, Hypocholesterolemia, Steatorrhea ORPHA:71
Kaufman Oculocerebrofacial Syndrome
Abnormal pinna morphology, Clinodactyly of the 5th finger, Atrial septal defect, Micrognathia, Co... OMIM:244450
Phenylketonuria
Attention deficit hyperactivity disorder, Hyperactivity, Hyperphenylalaninemia, Maternal hyperphe... OMIM:261600
Secondary Intestinal Lymphangiectasia
Reduced circulating transferrin concentration, Secondary hyperaldosteronism, Decreased prealbumin... ORPHA:90363
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of the ulna, Hypoplasia of the radius, Femoral bowing, Congenital hip dislocat... OMIM:228930
Hypophosphatemic Rickets, X-Linked Dominant
Metaphyseal irregularity, Hypophosphatemic rickets, Hypophosphatemia, Abnormal circulating calciu... OMIM:307800
Laurin-Sandrow Syndrome
Hand polydactyly, Absent radius, Syndactyly, Triphalangeal thumb, Patellar aplasia, Short foot, B... OMIM:135750
Optic Atrophy 11
Facial diplegia, Ataxia, Hyperactivity, Dysmetria, Optic atrophy, Macrotia, Hearing impairment OMIM:617302
Abcd Syndrome
Neonatal death, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Hearing impa... OMIM:600501
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Flexion contracture of thumb, Absent glenoid fossa, Clinodactyly of the 3rd finger, Short 1st met... ORPHA:96334
Hemophagocytic Syndrome Associated With An Infection
Increased circulating ferritin concentration, Hypertriglyceridemia, Ataxia, Hyperproteinemia ORPHA:158048
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypomagnesemia, Hypocalcemia, Decreased prealbumin level, Abnormal blood ion concentration, Type ... ORPHA:37042
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Delayed epiphyseal ossification, Hypophosphatemic rickets, Hypophosphatemia, Sparse bone trabecul... OMIM:241530
Weismann-Netter Syndrome
Abnormality of femur morphology, Tibial bowing, Abnormal morphology of ulna, Abnormal hip bone mo... ORPHA:3344
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Continuous spike and waves during slow s... OMIM:301008
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed epiphyseal ossification, Sparse bone trabeculae, Hypophosphatemia, Metaphyseal irregulari... OMIM:264700
Adult Krabbe Disease
Broad-based gait, Ataxia, EEG abnormality, Mental deterioration, Pes cavus, Progressive neurologi... ORPHA:206448
Juvenile Polyposis Syndrome
Hypokalemia, Hypoalbuminemia, Clubbing OMIM:174900
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Ataxia, Increased blood urea nitrogen, Pigmentary retinopath... ORPHA:90321
Late Infantile Neuronal Ceroid Lipofuscinosis
EEG with photoparoxysmal response, Ataxia, Inability to walk, Hyperactivity, Retinal degeneration... ORPHA:168491
Biliary, Renal, Neurologic, And Skeletal Syndrome
Increased circulating ferritin concentration, Atrioventricular canal defect, Osteopenia, Ventricu... OMIM:619534
Orofaciodigital Syndrome Type 2
Conductive hearing impairment, Protruding ear, Cone-shaped epiphyses of the phalanges of the hand... ORPHA:2751
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Atrial septal defect, Short ribs, Brachydactyly, Postaxial polysyndactyly of foot, Retinal dystro... OMIM:263520
Dubowitz Syndrome
Protruding ear, Clinodactyly of the 5th finger, Hyperactivity, Rod-cone dystrophy, Micrognathia, ... OMIM:223370
Myoclonic-Astatic Epilepsy
Ataxia, Hyperactivity, EEG with focal spike waves, EEG with polyspike wave complexes, EEG with ir... ORPHA:1942
19P13.12 Microdeletion Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Hyperlipidemia, Hyperactivity, T... ORPHA:254346
Multiple Myeloma
Hyperproteinemia, Osteopenia, Elevated circulating creatinine concentration, Hypercalcemia ORPHA:29073
Multiple Epiphyseal Dysplasia, Lowry Type
Dislocated radial head, Delayed epiphyseal ossification, Fragmented epiphyses, Epiphyseal dysplas... ORPHA:166016
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hyperlipidemia, Pedal edema, Hypoalbuminemia ORPHA:567546
Tay-Sachs Disease
Inability to walk, Quadriceps muscle atrophy, Laryngeal dystonia, Cherry red spot of the macula, ... ORPHA:845
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
EEG abnormality, Inability to walk, Hyperactivity, Tremor, Low-set ears OMIM:618718
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Myocardial fibrosis, Atrial septal defect, Exaggerated startle response, Pulmonic stenosis, Calf ... OMIM:253800
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Aplasia/Hypoplasia of the ulna, Aplasia of the 3rd finger, Split foot, Cupped ear, Short hallux, ... OMIM:119100
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Hyperactivity, Microtia, Small hand, Tapered finger, Pes planus, Sandal gap, Clinodactyly, Short ... OMIM:618089
Hepatocellular Carcinoma
Hypokalemia, Type II diabetes mellitus, Hyperbilirubinemia, Hypoglycemia, Pedal edema, Hypoalbumi... ORPHA:88673
Mend Syndrome
Overlapping toe, 2-3 toe syndactyly, Hyperactivity, Microretrognathia, Aortic valve stenosis, Ove... OMIM:300960
Laurin-Sandrow Syndrome
Preaxial foot polydactyly, Absent tibia, Absent radius, Preaxial hand polydactyly, Limb duplicati... ORPHA:2378
Hypophosphatemic Rickets, X-Linked Recessive
Delayed epiphyseal ossification, Hypophosphatemic rickets, Hypophosphatemia, Sparse bone trabecul... OMIM:300554
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Palmoplantar keratoderma, Hypoalbuminemia, Craniosynostosis ORPHA:79396
Chromosome 2Q37 Deletion Syndrome
Sensorineural hearing impairment, Short toe, Hyperactivity, Short phalanx of finger, Subvalvular ... OMIM:600430
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Atrial septal defect, Hyperactivity, Absent thumb, Pulmonic stenosis, EEG with burst suppression,... OMIM:619239
Omodysplasia 1
Atrial septal defect, Limited knee flexion/extension, Increased fibular diameter, Micrognathia, L... OMIM:258315
Acrodysostosis 2 With Or Without Hormone Resistance
Hyperactivity, Cone-shaped epiphysis, Brachydactyly, Short phalanx of finger, Diabetes mellitus, ... OMIM:614613
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypocalcemia, Reduced bone mineral density, Osteopenia, Thin bony cortex, Hypoglycemia, Unconjuga... OMIM:613658
Atelosteogenesis Type Iii
Talipes equinovarus, Hand clenching, Absent humerus, Knee dislocation, Micrognathia, Distal taper... ORPHA:56305
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Talipes equinovarus, Bilateral talipes equinovarus, Mirror image foot polydactyly, Low-set ears, ... OMIM:119800
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Hip dislocation, Coxa valga, Abnormal auditory evoked potentials OMIM:109120
Thrombocytopenia-Absent Radius Syndrome
Sensorineural hearing impairment, Aplasia/Hypoplasia of the ulna, Abnormal cardiac septum morphol... ORPHA:3320
Infantile Krabbe Disease
Decreased nerve conduction velocity, Cherry red spot of the macula, Opisthotonus, Mental deterior... ORPHA:206436
Mody
Glucose intolerance, Hypoinsulinemia, Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, El... ORPHA:552
Dyggve-Melchior-Clausen Disease
Inability to walk, Broad carpal bones, Abnormality of the ankles, Hypoplasia of the capital femor... ORPHA:239
Arthrogryposis, Distal, Type 2A
Talipes equinovarus, Adducted thumb, Camptodactyly, Ulnar deviation of the hand or of fingers of ... OMIM:193700
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Hyperactivity, Resting tremor, Tremor, Shuffling gait, Focal EEG discharges wit... ORPHA:3077
Seckel Syndrome 10
Glucose intolerance, Ventricular hypertrophy, Microretrognathia, Elevated hemoglobin A1c, Cone-sh... OMIM:617253
X-Linked Cerebral Adrenoleukodystrophy
Ataxia, Inability to walk, Hyperactivity, Abnormal circulating fatty-acid concentration, Dysmetri... ORPHA:139396
Infantile Neuroaxonal Dystrophy
Ataxia, Hyperactivity, Abnormal autonomic nervous system physiology, Mental deterioration, Optic ... ORPHA:35069
Primary Sclerosing Cholangitis
Osteopenia, Osteoporosis, Hypoalbuminemia, Type I diabetes mellitus ORPHA:171
Dent Disease 1
Delayed epiphyseal ossification, Sparse bone trabeculae, Hypophosphatemia, Metaphyseal irregulari... OMIM:300009
Acromesomelic Dysplasia 2B
Short metatarsal, Talipes equinovalgus, Brachydactyly, Short phalanx of finger, Deviation of fing... OMIM:228900
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Acetabular spurs, Absent tibia, Talipes equinovarus, Metaphyseal spurs, Short ribs, Postaxial pol... OMIM:613091
16P12.1P12.3 Triplication Syndrome
Large earlobe, 2-3 toe syndactyly, Hyperactivity, Atrial septal defect, Prominent fingertip pads,... ORPHA:485405
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the radius, Micrognathia, Short 5th finger, Neonatal death, Hypoplasia of the ulna,... OMIM:227270
X-Linked Creatine Transporter Deficiency
Ataxia, Hyperactivity, Athetosis, Abnormal circulating creatine concentration, Dystonia, Aganglio... ORPHA:52503
Marburg Hemorrhagic Fever
Hypokalemia, Hyperammonemia, Elevated circulating creatine kinase concentration, Hypoglycemia, El... ORPHA:99826
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Conductive hearing impairment, Aplasia/Hypoplasia of the thumb, Microtia, Mesomelic arm shortenin... OMIM:171480
Leptospirosis
Optic neuritis, Papilledema, Hyperproteinemia, Retinal hemorrhage, Chorioretinitis, Macular cotto... ORPHA:509
Tangier Disease
Facial diplegia, Left ventricular hypertrophy, Hypertriglyceridemia, Hypocholesterolemia, Coronar... ORPHA:31150
Otopalatodigital Syndrome, Type Ii
Radial deviation of the 2nd finger, Femoral bowing, Congenital hip dislocation, Rudimentary fibul... OMIM:304120
Cockayne Syndrome A
Sensorineural hearing impairment, Abnormal pinna morphology, Ivory epiphyses of the phalanges of ... OMIM:216400
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Inability to walk, Exaggerated startle response, Ankle clonus, Pes cavus, Optic atrophy, Optic di... OMIM:609541
Mucopolysaccharidosis, Type Iiib
Hyperactivity, Dense calvaria, Progressive neurologic deterioration, Asymmetric septal hypertroph... OMIM:252920
Spastic Paraplegia 29, Autosomal Dominant
Neonatal hyperbilirubinemia, Pes cavus, Sensorineural hearing impairment, Hyperactivity OMIM:609727
Juvenile Polyposis Syndrome
Clubbing of fingers, Low-set ears, Hypoproteinemia ORPHA:2929
Ulnar/Fibular Ray Defect And Brachydactyly
Atrial septal defect, Bilateral talipes equinovarus, Brachydactyly, Postaxial oligodactyly, Lower... OMIM:608571
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Abnormality of fibula morphology, Pa... ORPHA:988
Cntnap2-Related Developmental And Epileptic Encephalopathy
EEG with focal spikes, Ataxia, Hyperactivity, Progressive language deterioration, Preaxial polyda... ORPHA:163681
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Hand monodactyly, Bifid femur, Split hand, Foot monodactyly, Absent tibia OMIM:228250
Stankiewicz-Isidor Syndrome
Low-set ears, 2-3 toe syndactyly, Hyperactivity, Absent thumb, Micrognathia, Ventricular septal d... OMIM:617516
Mesomelic Dysplasia, Savarirayan Type
Hypoplasia of proximal radius, Flared radial metaphysis, High iliac wing, Metatarsus valgus, Glen... ORPHA:85170
Occipital Horn Syndrome
Osteopenia, Abnormality of the pubic bone, Humerus varus, Down-sloping shoulders, Abnormality of ... ORPHA:198
Mucopolysaccharidosis, Type Iiic
Hyperactivity, Rod-cone dystrophy, Dense calvaria, Motor deterioration, Asymmetric septal hypertr... OMIM:252930
Microphthalmia With Limb Anomalies
Tibial bowing, Talipes equinovarus, Hand oligodactyly, Camptodactyly of 2nd-5th fingers, Postaxia... OMIM:206920
Developmental And Epileptic Encephalopathy 103
Ataxia, Hyperactivity, Continuous spike and waves during slow sleep, EEG with polyspike wave comp... OMIM:619913
Trisomy 10P
EEG with focal spikes, Flexion contracture of thumb, Short toe, Talipes equinovarus, Micrognathia... ORPHA:171929
X-Linked Intellectual Disability, Cabezas Type
Broad-based gait, EEG abnormality, Hyperactivity, Clinodactyly of the 5th finger, Small hand, Pes... ORPHA:85293
Fibrochondrogenesis 1
Short palm, Abnormal pinna morphology, Clinodactyly of the 5th finger, Stillbirth, Narrow greater... OMIM:228520
Mucopolysaccharidosis Type 3
Abnormal mitral valve morphology, Ataxia, Retinal degeneration, Optic atrophy, Genu valgum, Abnor... ORPHA:581
Acromesomelic Dysplasia 3
Carpal synostosis, Short toe, Talipes equinovarus, Bilateral talipes equinovarus, Short 1st metac... OMIM:609441
Atelosteogenesis, Type I
Aplasia/Hypoplasia of the ulna, 11 pairs of ribs, Rhizomelia, Clubbing, Multinucleated giant chon... OMIM:108720
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Abnormal morphology of ulna, Micromelia, Synostosis of carpal bones, Abnormality of tibia morphol... ORPHA:2634
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hypomagnesemia, Hypokalemia, Hyperactivity OMIM:618314
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response, Pes cavus, Hyporeflexia of lower limbs, Optic atrophy, Optic disc p... ORPHA:320406
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Metaphyseal irregularity, Cone-shaped epiphyses of the phalanges of the hand, Retinal degeneratio... OMIM:208500
Seckel Syndrome 1
Dislocated radial head, Abnormal pinna morphology, Cone-shaped epiphyses of the phalanges of the ... OMIM:210600
Tropical Endomyocardial Fibrosis
Right ventricular cardiomyopathy, Restrictive cardiomyopathy, Endocardial fibrosis, Pedal edema, ... ORPHA:75565
Mogs-Cdg
Sensorineural hearing impairment, Absent brainstem auditory responses, Atrial septal defect, Left... ORPHA:79330
Intellectual Developmental Disorder, Autosomal Recessive 71
Attention deficit hyperactivity disorder, Ventricular septal defect, Hyperactivity, Macrotia OMIM:618504
Hyperlysinemia
Hyperlysinemia, Hyperactivity, EEG with spike-wave complexes, Dysmetria, Hyperammonemia, Craniosy... ORPHA:2203
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Arachnodactyly, Pulmonic stenosis, Pes planus, Attention deficit hyperactivity dis... OMIM:617600
Cockayne Syndrome B
Sensorineural hearing impairment, Abnormal pinna morphology, Ivory epiphyses of the phalanges of ... OMIM:133540
Autosomal Recessive Hypophosphatemic Rickets
Sensorineural hearing impairment, Rickets of the lower limbs, Hypophosphatemic rickets, Pseudo-fr... ORPHA:289176
Eiken Syndrome
Delayed epiphyseal ossification, Long hallux, Delayed ossification of carpal bones, Delayed tarsa... OMIM:600002
Immunodeficiency 82 With Systemic Inflammation
Elevated circulating C-reactive protein concentration, Cholesteatoma, Osteomalacia, Hypernatremia... OMIM:619381
Hydrolethalus Syndrome 1
Abnormal pinna morphology, Talipes equinovarus, Micrognathia, Proximal tibial hypoplasia, Upper l... OMIM:236680
Mucopolysaccharidosis Type 2
Abnormal mitral valve morphology, Retinal degeneration, Mental deterioration, Optic atrophy, Abno... ORPHA:580
X-Linked Adrenoleukodystrophy
Hyperactivity, Cognitive impairment, Progressive hearing impairment, Gait disturbance, Leg muscle... ORPHA:43
Legius Syndrome
Clinodactyly of the 5th finger, Hyperactivity, Cognitive impairment, Pulmonic stenosis, Vestibula... ORPHA:137605
Pmm2-Cdg
Photoreceptor layer loss on macular OCT, Abnormal pinna morphology, Ataxia, Hyperinsulinemia, Rod... ORPHA:79318
Thrombocytopenia-Absent Radius Syndrome
Absent thumb, Atrioventricular canal defect, Hypoplasia of the radius, Femoral bowing, Hypoplasia... OMIM:274000
Stiff Person Spectrum Disorder
Difficulty walking, Exaggerated startle response, Falls, Diabetes mellitus ORPHA:3198
Gm1 Gangliosidosis Type 1
Broad metacarpals, Low-set ears, Flattened femoral head, Hypoplastic vertebral bodies, Exaggerate... ORPHA:79255
Tay-Sachs Disease
Psychomotor deterioration, Exaggerated startle response, Cherry red spot of the macula, Dementia OMIM:272800
Purine Nucleoside Phosphorylase Deficiency
Sensorineural hearing impairment, Ataxia, Hyperactivity, Hypouricemia ORPHA:760
Spastic Tetraplegia And Axial Hypotonia, Progressive
Overlapping toe, Ataxia, Exaggerated startle response, Ankle clonus, Low-set, posteriorly rotated... OMIM:618598
Neurodegeneration With Brain Iron Accumulation 2B
Hyperactivity, Dysmetria, Intention tremor, Mental deterioration, Dysdiadochokinesis, Optic atrop... OMIM:610217
Acro-Renal-Mandibular Syndrome
Split foot, Hypoplasia of the radius, Micrognathia, Rudimentary fibula, Low-set, posteriorly rota... ORPHA:958
Sandhoff Disease
Ataxia, Exaggerated startle response, Progressive psychomotor deterioration, Cherry red spot of t... OMIM:268800
Cranioectodermal Dysplasia 1
Short distal phalanx of finger, Protruding ear, Hypocalcemia, Short toe, Bicuspid aortic valve, S... OMIM:218330
Plaa-Associated Neurodevelopmental Disorder
Sensorineural hearing impairment, Edema of the dorsum of feet, Exaggerated startle response, Hype... ORPHA:521426
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Short-segment aganglionic megacolon, Absent brainstem auditory responses, Hypoplasia of the semic... OMIM:609136
Charge Syndrome
Aplasia of the semicircular canal, Down-sloping shoulders, Hypoplasia of the ulna, Ventricular se... OMIM:214800
Gm2 Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response, Cherry red spot of the macula, Cognitive impairment ORPHA:309246
Ophthalmomandibulomelic Dysplasia
Radial bowing, Coxa valga, Lateral humeral condyle aplasia, Ulnar deviated club hands, Mesomelia,... OMIM:164900
Neurodegeneration With Brain Iron Accumulation 1
Ataxia, Akinesia, Hyperactivity, Retinal degeneration, Blepharospasm, Mental deterioration, Pigme... OMIM:234200
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Low-set ears, Small abnormally formed scapulae, Tibial bowing... ORPHA:140
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Hypoalbuminemia, Macrotia OMIM:614748
Pitt-Hopkins-Like Syndrome 1
Ataxia, EEG abnormality, Hyperactivity, Progressive language deterioration OMIM:610042
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Femoral bowing, Short 1st metacarpal, 11 pairs of ribs, Bowin... OMIM:114290
Acrodysostosis With Multiple Hormone Resistance
Short toe, Hypocalcemia, Hyperactivity, Hypoplastic vertebral bodies, Absent/hypoplastic paranasa... ORPHA:280651
Distal Trisomy 17Q
Overlapping toe, Protruding ear, Hyperactivity, Arachnodactyly, Micrognathia, Pes cavus, Low-set,... ORPHA:3379
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Palmoplantar hyperhidrosis, Exaggerated startle response, Postaxial polydactyly, Cognitive impair... OMIM:617527
Glycine Encephalopathy With Normal Serum Glycine
Overlapping toe, Talipes equinovarus, Exaggerated startle response, Genu recurvatum, Optic atroph... OMIM:617301
Acrofacial Dysostosis, Rodríguez Type
Aplasia/Hypoplasia of the ulna, Microretrognathia, Talipes equinovarus, Hand oligodactyly, Microt... ORPHA:1788
Early Infantile Epileptic Encephalopathy
EEG abnormality, Hyperactivity, EEG with spike-wave complexes, Broad finger, EEG with burst suppr... ORPHA:1934
Acheiropodia
Aplasia of the ulna, Absent hand, Upper limb phocomelia, Short humerus, Abnormal epiphysis morpho... ORPHA:931
Asparagine Synthetase Deficiency
Exaggerated startle response, Micrognathia, Long foot, Large hands, Hypsarrhythmia, Macrotia OMIM:615574
Choreoacanthocytosis
Oromandibular dystonia, Bradyphrenia, Loss of ambulation, Lingual dystonia, Hyperactivity, Laryng... ORPHA:2388
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response, EEG with temporal focal spikes ORPHA:163985
Brachymesomelia-Renal Syndrome
Hypoplasia of the radius, Micrognathia, Mesomelic arm shortening, Low-set ears, Fibular hypoplasi... OMIM:113470
Acrorenal-Mandibular Syndrome
Split foot, Hypoplasia of the radius, Micrognathia, Hand polydactyly, Rudimentary fibula, Rudimen... OMIM:200980
Maternal Phenylketonuria
Double outlet right ventricle, Hyperactivity, Hypoplastic left heart, Micrognathia, Brachydactyly... ORPHA:2209
Ulna And Fibula, Hypoplasia Of
Hypoplasia of the ulna, Fibular hypoplasia OMIM:191400
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Blepharospasm, Exaggerated startle response, Oculogyric crisis, Athetosis, Choreoath... OMIM:608643
Tibial Hemimelia
Absent tibia OMIM:275220
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Broad-based gait, Bicuspid aortic valve, Inability to walk, Atrial septal defect, Exaggerated sta... ORPHA:438213
Osteopathia Striata With Cranial Sclerosis
Conductive hearing impairment, Sclerosis of skull base, Clinodactyly of the 5th finger, Talipes e... OMIM:300373
Osteofibrous Dysplasia, Susceptibility To
Fibular hypoplasia, Pseudoarthrosis OMIM:607278
Chromosome 15Q25 Deletion Syndrome
Abnormal cardiac septum morphology, Hyperactivity, Long fingers, Ventricular septal defect, Dextr... OMIM:614294
Argininemia
Hyperargininemia, Spastic gait, Hyperactivity, Hyperammonemia OMIM:207800
Acromelic Frontonasal Dysplasia
Patellar hypoplasia, Preaxial foot polydactyly, Talipes equinovarus, Aplasia/Hypoplasia of the tibia ORPHA:1827
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Abnormal pinna morphology, Hypoplasia of the radius, Femoral bowing, Decreased calvarial ossifica... OMIM:276820
Gm2-Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response, Dementia OMIM:272750
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Broad-based gait, Ataxia, Exaggerated startle response, External ear malformation, Dystonia ORPHA:438216
Stiff-Person Syndrome
Exaggerated startle response, Opisthotonus, Diabetes mellitus OMIM:184850
Histidinemia
Hyperhistidinemia, Hyperactivity ORPHA:2157
Orofaciodigital Syndrome Type 4
Conductive hearing impairment, Aplasia/Hypoplasia of the tibia, Finger syndactyly, Split hand, Ab... ORPHA:2753
Hyperekplexia 1
Hip dislocation, Exaggerated startle response OMIM:149400
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Clinodactyly of the 5th finger, Atrial septal defect, Exaggerated startle response, Microtia, Sho... OMIM:619522
Camptodactyly Syndrome, Guadalajara, Type I
Short palm, Absent ethmoidal sinuses, Short metatarsal, Microtia, Overfolding of the superior hel... OMIM:211910
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Schneckenbecken Dysplasia
Hypoplastic vertebral bodies, Short ribs, Increased fibular diameter, Hypoplastic ilia, Micromeli... ORPHA:3144
Tibia, Absence Or Hypoplasia Of, With Polydactyly, Retrocerebellar Arachnoid Cyst, And Other Anomalies
Radial bowing, Talipes equinovarus, Aplasia/Hypoplasia of the tibia, Postaxial foot polydactyly, ... OMIM:601027
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Hypoplasia of proximal radius, T... ORPHA:444077
Kinsship Syndrome
Dislocated radial head, Osteopenia, Micrognathia, Polydactyly, Mesomelia, Pes planus, Fibular hyp... OMIM:619297
Hyperekplexia 2
Exaggerated startle response OMIM:614619
8Q24.3 Microdeletion Syndrome
Atrioventricular canal defect, Congenital hip dislocation, Micromelia, Finger clinodactyly, Ventr... ORPHA:508488

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) 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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