banner
Genes Phenotypes Help, News, Blog

Gene: Ywhaz MGI:109484

Log in to follow

Gene Summary

Name:
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta polypeptide
Synonyms:
14-3-3 zeta,  1110013I11Rik

Order Alleles

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased leukocyte cell number Ywhaztm1b(EUCOMM)Hmgu HET Early adult 3.99×10-07
abnormal skin morphology Ywhaztm1b(EUCOMM)Hmgu HET Early adult 0.00
increased heart weight Ywhaztm1b(EUCOMM)Hmgu HET Early adult 7.39×10-05
abnormal sinus arrhythmia Ywhaztm1b(EUCOMM)Hmgu HET   Early adult 2.58×10-06
edema Ywhaztm1b(EUCOMM)Hmgu HOM E15.5 0.00
edema Ywhaztm1b(EUCOMM)Hmgu HET E15.5 0.00
preweaning lethality, incomplete penetrance Ywhaztm1b(EUCOMM)Hmgu HOM   Early adult 0.00
enlarged lymph nodes Ywhaztm1b(EUCOMM)Hmgu HET Early adult 0.00
short tibia Ywhaztm1b(EUCOMM)Hmgu HET Early adult 6.13×10-05
increased lymphocyte cell number Ywhaztm1b(EUCOMM)Hmgu HET Early adult 7.90×10-07

Download data as:  TSV  XLS

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

lacZ Expression

No Adult expression data was found for this gene.

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Axial skeleton N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Brain N/A heterozygote 66.67% (2 of 3)
Brain N/A homozygote Ambiguous
Central nervous system ganglion N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Ear N/A heterozygote 66.67% (2 of 3)
Ear N/A homozygote Ambiguous
Embryo N/A heterozygote 100% (3 of 3)
Embryo N/A homozygote 100% (1 of 1)
Eye N/A heterozygote 66.67% (2 of 3)
Eye N/A homozygote Ambiguous
Footplate N/A heterozygote 66.67% (2 of 3)
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote 66.67% (2 of 3)
Forebrain N/A homozygote Ambiguous
Forelimb N/A heterozygote 66.67% (2 of 3)
Forelimb N/A homozygote Ambiguous
Gut N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Handplate N/A heterozygote 66.67% (2 of 3)
Handplate N/A homozygote Ambiguous
Head N/A heterozygote 66.67% (2 of 3)
Head N/A homozygote Ambiguous
Heart N/A heterozygote 66.67% (2 of 3)
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote 66.67% (2 of 3)
Hindbrain N/A homozygote Ambiguous
Hindlimb N/A heterozygote 66.67% (2 of 3)
Hindlimb N/A homozygote Ambiguous
Liver N/A heterozygote 66.67% (2 of 3)
Liver N/A homozygote Ambiguous
Lung N/A heterozygote 66.67% (2 of 3)
Lung N/A homozygote Ambiguous
Mandibular process N/A heterozygote 66.67% (2 of 3)
Mandibular process N/A homozygote Ambiguous
Maxillary process N/A heterozygote 66.67% (2 of 3)
Maxillary process N/A homozygote Ambiguous
Midbrain N/A heterozygote 66.67% (2 of 3)
Midbrain N/A homozygote Ambiguous
Nose N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Oral cavity N/A heterozygote 66.67% (2 of 3)
Oral cavity N/A homozygote Ambiguous
Chorioallantoic placenta N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Skeleton N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Skin N/A heterozygote 66.67% (2 of 3)
Skin N/A homozygote Ambiguous
Spinal cord N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Tail somite N/A heterozygote 66.67% (2 of 3)
Tail somite N/A homozygote Ambiguous
Tail N/A heterozygote 66.67% (2 of 3)
Tail N/A homozygote Ambiguous
Trachea N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Urinary system N/A heterozygote 100% (2 of 2)
N/A Ambiguous

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
axial skeleton 1.56% (1 of 64)
brain 1.18% (6 of 510)
central nervous system ganglion 1.37% (1 of 73)
ear 0.2% (1 of 510)
embryo 0.39% (2 of 511)
eye 0.2% (1 of 510)
footplate 0.2% (1 of 510)
forebrain 0.2% (1 of 510)
forelimb 0.2% (1 of 510)
gut 1.69% (1 of 59)
handplate 0.2% (1 of 510)
head 0.98% (5 of 510)
heart 0.2% (1 of 510)
hindbrain 1.18% (6 of 510)
hindlimb 0.2% (1 of 510)
liver 0.2% (1 of 505)
lung 0.2% (1 of 505)
mandibular process 0.2% (1 of 510)
maxillary process 0.2% (1 of 510)
midbrain 0.2% (1 of 510)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 505)
placenta 16.67% (7 of 42)
skeleton 1.28% (1 of 78)
skin 0.2% (1 of 510)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 510)
tail somite group 0.2% (1 of 510)
trachea 1.69% (1 of 59)
urinary system 1.69% (1 of 59)

Associated Images

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

Gross Pathology and Tissue Collection

Images

8 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

11 Images

View images
X-ray

XRay Images Skull Lateral Orientation

11 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

11 Images

View images
Download thumbnail Download
Immunophenotyping

Panel A FCS file(s)

6 Images

View images
Download thumbnail Download
MicroCT E14.5-E15.5

Embryo reconstruction

7 Images

View images
Embryo LacZ

LacZ images wholemount

16 Images

View images
Eye Morphology

Images Ophthalmoscopy

19 Images

View images
Histopathology

Images

2 Images

View images
X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

View images
Download thumbnail Download
Immunophenotyping

Panel B FCS file(s)

6 Images

View images

Human diseases caused by Ywhaz 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 Ywhaz by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Corneal Dystrophy, Fuchs Endothelial, 3
Edema OMIM:613267
Lipedema
Edema OMIM:614103
Angioedema, Hereditary, 6
Angioedema, Facial edema, Edema of the dorsum of hands OMIM:619363
Lymphatic Malformation 11
Lymphedema, Pedal edema OMIM:619401
Dysplasia Of Head Of Femur, Meyer Type
Multicentric femoral head ossification, Flattened femoral head, Leukocytosis, Enlarged tonsils, C... ORPHA:168621
Kaposi Sarcoma, Susceptibility To
Edema OMIM:148000
Lymphatic Malformation 2
Lymphedema OMIM:611944
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Gray matter heterotopia, Impulsivity, Hyperactivity, Polymicrogyria, Lissencephaly, Aggressive be... OMIM:604317
Syndactyly Type 4
Short tibia, Camptodactyly of finger, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, Foot ... ORPHA:93405
Angioedema, Hereditary, 5
Angioedema, Facial edema, Edema of the dorsum of hands OMIM:619361
Lissencephaly, X-Linked, 1
Ataxia, Gray matter heterotopia, Agyria, Lissencephaly, Postnatal growth retardation, Pachygyria,... OMIM:300067
Acromesomelic Dysplasia 2A
Short femur, Hypoplasia of the radius, Short tibia, Short humerus, Aplasia/Hypoplasia of the pate... OMIM:200700
Acromesomelic Dysplasia 2C
Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short tibia, Shortening of all pr... OMIM:201250
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the radius, Cone-shaped epiphys... OMIM:607778
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short tibia, Micromelia, Short 3rd metacarpal, Limb undergrowth, Short 2nd metacarpal, Short 4th ... OMIM:118651
Osebold-Remondini Syndrome
Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Hypoplasia of the radius, Short... OMIM:112910
Acromesomelic Dysplasia, Grebe Type
Short toe, Short tibia, Aplasia of the middle phalanges of the toes, Brachydactyly, Micromelia, S... ORPHA:2098
Lethal Faciocardiomelic Dysplasia
Microretrognathia, Hypoplastic left heart, Hypoplasia of the radius, Radial club hand, Short tibi... ORPHA:1972
Phosphoserine Phosphatase Deficiency
Postnatal growth retardation, Intrauterine growth retardation OMIM:614023
Fibular Hemimelia
Talipes equinovalgus, Structural foot deformity, Arthralgia of the hip, Thrombocytopenia, Abnorma... ORPHA:93323
Lissencephaly 3
Ataxia, Gray matter heterotopia, Polymicrogyria, Agyria, Lissencephaly, Pachygyria, Agenesis of c... OMIM:611603
Langer Mesomelic Dysplasia
Radial bowing, Hypoplasia of the radius, Micrognathia, Broad ulna, Short tibia, Rudimentary fibul... OMIM:249700
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Leri-Weill Dyschondrosteosis
Short toe, Tibial bowing, Abnormal femoral neck morphology, Radial bowing, Coxa valga, Hypoplasia... OMIM:127300
Pulmonary Edema Of Mountaineers, Susceptibility To
Pulmonary edema, Edema OMIM:178400
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Gray matter heterotopia, Agyria, Lissencephaly, Subcortical band heterotopia, Pachygyria, Intraut... OMIM:615411
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Tibial bowing, Hand oligodactyly, Short tibia, Syndactyly, Foot oligodactyly, Fibular aplasia OMIM:246570
Acheiropody
Aplasia of the ulna, Absent hand, Short tibia, Lower limb peromelia, Carpal bone aplasia, Short h... OMIM:200500
Idiopathic Steroid-Sensitive Nephrotic Syndrome
Lymphedema ORPHA:69061
Léri-Weill Dyschondrosteosis
Abnormality of femur morphology, Hypoplasia of the radius, Cone-shaped epiphysis, Micromelia, Abn... ORPHA:240
Sub-Cortical Nodular Heterotopia
Abnormality of neuronal migration, Subcortical heterotopia, Agenesis of corpus callosum, Polymicr... ORPHA:101029
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Apathy, Anxiety, Inappropriate behavior, Memory impairment, Falls, Abnormal neuron morphology, Mo... ORPHA:412066
Edema, Familial Idiopathic, Prepubertal
Edema OMIM:129840
Lymphedema-Cerebral Arteriovenous Anomaly Syndrome
Lymphedema ORPHA:86914
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Hypoplasia of the radius, Short tibia, Pseudoarthrosis OMIM:156230
Polyhydramnios, Chronic Idiopathic
Polyhydramnios OMIM:263610
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Preaxial polydactyly, Short tibia, Triphalangeal thumb, Fibular duplication, Absent tibia OMIM:188740
Chilblain Lupus 2
Edema OMIM:614415
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Short femur, Hypoplasia of the radius, Short tibia, Lytic defects of humeral diaphysis, Hypoplasi... OMIM:601376
Chudley-Mccullough Syndrome
Partial agenesis of the corpus callosum, Gray matter heterotopia, Dysplastic corpus callosum, Pol... OMIM:604213
Band Heterotopia
Gray matter heterotopia, Agenesis of corpus callosum, Polymicrogyria, Subcortical band heterotopia OMIM:600348
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thrombocytopenia, Follicular h... OMIM:614470
Thrombocytopenia 2
Thrombocytopenia, Leukocytosis OMIM:188000
Mesomelic Dysplasia, Savarirayan Type
Dislocated radial head, Short tibia, Talipes equinovalgus, Mesomelia, Abnormal foot morphology, H... OMIM:605274
Macular Dystrophy, Dominant Cystoid
Cystoid macular edema, Edema OMIM:153880
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia of the tibia, Hand monodactyly, ... ORPHA:1986
Lissencephaly 1
Gray matter heterotopia, Agyria, Lissencephaly, Subcortical band heterotopia, Pachygyria OMIM:607432
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
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pleural effusion, Generalized edema, Pericardial effusion OMIM:618773
Endove Syndrome, Limb-Only Type
Aplasia of the distal phalanges of the toes, Short middle phalanx of the 2nd finger, Cutaneous sy... OMIM:619217
Orofaciodigital Syndrome Type 10
Mesomelic leg shortening, Short toe, Hypoplasia of proximal radius, Preaxial polydactyly, Microgn... ORPHA:2756
Lymphatic Malformation 3
Lymphedema OMIM:613480
Reticuloendotheliosis, X-Linked
Anemia, Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Eosinophilia, Familial
Leukocytosis, Eosinophilia, Myocardial eosinophilic infiltration, Anemia, Thrombocytopenia OMIM:131400
Myeloproliferative Syndrome, Transient
Transient myeloproliferative syndrome, Leukocytosis OMIM:159595
Glaucoma 3, Primary Congenital, E
Edema OMIM:617272
Acute Peripheral Arterial Occlusion
Supraventricular tachycardia, Leukocytosis, Absent ankle pulse, Myocardial infarction, Abnormalit... ORPHA:90064
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Congestive heart failure, Cardiomegaly, Reduced systolic function OMIM:604765
Mismatch Repair Cancer Syndrome 4
Gray matter heterotopia, Agenesis of corpus callosum OMIM:619101
White Sponge Nevus 2
Edema OMIM:615785
Maternal Hyperthermia-Induced Birth Defects
Abnormality of neuronal migration, Short stature, Intrauterine growth retardation, Cognitive impa... ORPHA:2216
Polymicrogyria Due To Tubb2B Mutation
Perisylvian polymicrogyria, Gray matter heterotopia, Cognitive impairment, Polymicrogyria, Latera... ORPHA:300573
Laurin-Sandrow Syndrome
Hand polydactyly, Absent radius, Syndactyly, Triphalangeal thumb, Patellar aplasia, Short foot, B... OMIM:135750
Microlissencephaly
Periventricular heterotopia, Polymicrogyria, Lissencephaly, Simplified gyral pattern, Pachygyria,... ORPHA:1083
Immunodeficiency 75
Decreased proportion of class-switched memory B cells, Hepatosplenomegaly, Follicular hyperplasia... OMIM:619126
Dyschondrosteosis And Nephritis
Ulnar bowing, Short tibia, Radial bowing, Short forearm OMIM:127350
Polycythemia Vera
Budd-Chiari syndrome, Increased hematocrit, Leukocytosis, Splenomegaly, Cerebral hemorrhage, Cere... OMIM:263300
Tibial Hemimelia
Radial club hand, Aplasia of the 2nd metacarpal, Talipes equinovarus, Absent hallux, Polydactyly,... ORPHA:93322
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormality of neuronal migration, Ataxia, Attention deficit hyperactivity disorder OMIM:618709
Orofaciodigital Syndrome Viii
Short tibia, Syndactyly, Polydactyly OMIM:300484
Periventricular Nodular Heterotopia 6
Periventricular nodular heterotopia, Gray matter heterotopia OMIM:615544
Symmetrical Thalamic Calcifications
Abnormality of neuronal migration, Ataxia, Cognitive impairment ORPHA:1314
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Agyria, Pachygyria, Gray matter heterotopia ORPHA:1084
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Acrofacial Dysostosis Syndrome Of Rodriguez
Overlapping toe, Talipes equinovarus, Micrognathia, Short tibia, 11 pairs of ribs, Triphalangeal ... OMIM:201170
Neutrophil Immunodeficiency Syndrome
Abnormality of neutrophil physiology, Leukocytosis ORPHA:183707
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Ectrodactyly, Aplasia/Hypoplasia... ORPHA:3329
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis OMIM:619398
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Periventricular nodular heterotopia, Periventricular heterotopia OMIM:608097
Short Rib-Polydactyly Syndrome
Cone-shaped epiphysis, Micromelia, Bowing of the long bones, Short long bone, Abnormal heart morp... ORPHA:1505
Acquired Idiopathic Sideroblastic Anemia
Anemia of inadequate production, Granulocytopenia, Hepatomegaly, Neutropenia, Leukocytosis, Splen... ORPHA:75564
Immunodeficiency 69
Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Pancytopenia, Anemia OMIM:618963
Choanal Atresia And Lymphedema
Lymphedema, Pericardial effusion OMIM:613611
Nodular Neuronal Heterotopia
Abnormality of neuronal migration ORPHA:2149
Lymphatic Malformation 9
Predominantly lower limb lymphedema OMIM:619319
Immunodeficiency 105
Lymphopenia, Hepatosplenomegaly, B lymphocytopenia, T lymphocytopenia, Absence of lymph node germ... OMIM:619924
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
Lymphatic Malformation 10
Lymphedema OMIM:619369
Spondyloepimetaphyseal Dysplasia, Missouri Type
Metaphyseal irregularity, Tibial bowing, Femoral bowing, Flared metaphysis, Genu varum, Flattened... ORPHA:93356
Weismann-Netter Syndrome
Abnormality of femur morphology, Tibial bowing, Abnormal morphology of ulna, Abnormal hip bone mo... ORPHA:3344
Congenital Disorder Of Glycosylation, Type Ig
Talipes equinovarus, Short ribs, Hypoplasia of the radius, Short femur, Short tibia, Short humeru... OMIM:607143
Deafness, Unilateral, With Delayed Endolymphatic Hydrops
Edema OMIM:612097
Gm2 Gangliosidosis, Ab Variant
Abnormal fear/anxiety-related behavior, Exaggerated startle response, Cognitive impairment, Short... ORPHA:309246
Autosomal Recessive Primary Microcephaly
Gray matter heterotopia, Short stature, Growth delay, Pachygyria, Agenesis of corpus callosum ORPHA:2512
Periventricular Nodular Heterotopia 7
Periventricular nodular heterotopia, Gray matter heterotopia OMIM:617201
Blount Disease
Abnormality of the knee, Abnormal tibial metaphysis morphology, Tibial bowing, Abnormality of the... ORPHA:2768
Cardiomyopathy, Familial Hypertrophic 27
Tricuspid regurgitation, Right ventricular hypertrophy, Concentric hypertrophic cardiomyopathy, M... OMIM:618052
Lymphedema And Cerebral Arteriovenous Anomaly
Lymphedema OMIM:152900
Immunodeficiency 72 With Autoinflammation
Hepatosplenomegaly, Increased B cell count, Clubbing of fingers, Lymphadenopathy, Increased propo... OMIM:618982
Acromesomelic Dysplasia 2B
Short metatarsal, Talipes equinovalgus, Brachydactyly, Short phalanx of finger, Deviation of fing... OMIM:228900
Immunodeficiency 27A
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Hy... OMIM:209950
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Lymphopenia, Hepatomegaly, Splenomegaly, Aplasia of the thymus, Abnormally low T cell receptor ex... OMIM:602450
Orofaciodigital Syndrome Iv
Postaxial polydactyly, Micrognathia, Short tibia, Brachydactyly, Short finger, Clinodactyly, Hand... OMIM:258860
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Aplasia/Hypoplasia of the ulna, Aplasia of the 3rd finger, Split foot, Short hallux, Hand monodac... OMIM:119100
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Abnormality of fibula morphology, Pa... ORPHA:988
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Hand monodactyly, Bifid femur, Split hand, Foot monodactyly, Absent tibia OMIM:228250
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Hepatomegaly, Lymphocytosis, Hemophagocytosis, Splenomegaly, Aplastic anemia, Vascul... OMIM:308240
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Lymphopenia, Follicular hyperplasia, Autoimmune thrombocytopenia, Decreased proportion of class-s... OMIM:619846
Multiple Epiphyseal Dysplasia With Robin Phenotype
Dislocated radial head, Coxa vara, Flat capital femoral epiphysis, Talipes equinovarus, Short fem... OMIM:601560
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphocytosis, Decreased mean platelet volume, Vasculitis, Thrombocytopenia, Lymphadenopathy OMIM:617718
Cntnap2-Related Developmental And Epileptic Encephalopathy
Skin-picking, Ataxia, Hyperactivity, Progressive language deterioration, Self-mutilation, Mental ... ORPHA:163681
Lymphatic Malformation 7
Pulmonary edema, Facial edema, Nonimmune hydrops fetalis, Lymphedema, Edema, Pericardial effusion OMIM:617300
Eiken Syndrome
Epiphyseal dysplasia, Metaphyseal irregularity, Short toe, Delayed epiphyseal ossification, Abnor... ORPHA:79106
Hypocalcemia, Autosomal Dominant 2
Postnatal growth retardation OMIM:615361
Slc35A2-Cdg
Talipes equinovarus, Short tibia, Aplasia/hypoplasia involving bones of the extremities, Camptoda... ORPHA:356961
Bilateral Striopallidodentate Calcinosis
Abnormality of neuronal migration, Intrauterine growth retardation ORPHA:1980
Stuve-Wiedemann Syndrome 1
Femoral bowing, Ulnar deviation of finger, Contracture of the proximal interphalangeal joint of t... OMIM:601559
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphopenia, Lymphocytosis, Hepatosplenomegaly, Eosinophilia, Autoimmune thrombocytopenia, T lymp... ORPHA:169154
Attrv122I Amyloidosis
Angina pectoris, Cardiac amyloidosis, Aortic valve stenosis, Atrial arrhythmia, Restrictive cardi... ORPHA:85451
Coronary Arterial Fistula
Angina pectoris, Systolic heart murmur, Pedal edema, Cardiomegaly, Abnormal heart morphology, Pal... ORPHA:2041
Mesomelic Dysplasia, Savarirayan Type
Hypoplasia of proximal radius, Flared radial metaphysis, High iliac wing, Metatarsus valgus, Glen... ORPHA:85170
Metaphyseal Dysplasia, Braun-Tinschert Type
Upper limb metaphyseal widening, Humerus varus, Hypoplasia of the ulna, Flared femoral metaphysis... ORPHA:85188
Microcephaly-Micromelia Syndrome
Forearm undergrowth, Talipes equinovarus, Micrognathia, Short tibia, Micromelia, Oligodactyly, Hu... OMIM:251230
Chronic Myeloid Leukemia
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo... ORPHA:521
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Abnormality of the lymph ... OMIM:612840
Robin Sequence With Cleft Mandible And Limb Anomalies
Hypoplasia of the radius, Hip subluxation, Clinodactyly of the 5th finger, Talipes equinovarus, M... OMIM:268305
Schnitzler Syndrome
Hepatomegaly, Leukocytosis, Splenomegaly, Vasculitis, Anemia, Lymphadenopathy ORPHA:37748
Acute Monoblastic/Monocytic Leukemia
Lymphocytosis, Leukocytosis, Hypochromic anemia, Acute monocytic leukemia, Cervical lymphadenopat... ORPHA:514
Hemimegalencephaly
Abnormal neuron morphology, Pachygyria, Gray matter heterotopia, Polymicrogyria ORPHA:99802
Long Qt Syndrome 15
Polymorphic ventricular tachycardia, Ventricular bigeminy, Left ventricular noncompaction, Ventri... OMIM:616249
Thrombocytopenia-Absent Radius Syndrome
Aplasia/Hypoplasia of the ulna, Abnormal cardiac septum morphology, Clinodactyly of the 5th finge... ORPHA:3320
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of naive T cells, Hepatomegaly, Lymphopenia, Abnormally low T cell receptor ... ORPHA:276
Fixed Subaortic Stenosis
Bacterial endocarditis, Abnormal cardiac septum morphology, Bicuspid aortic valve, Angina pectori... ORPHA:3092
Lissencephaly Syndrome, Norman-Roberts Type
4-layered lissencephaly, Abnormality of neuronal migration, Microlissencephaly, Intrauterine grow... ORPHA:89844
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy ORPHA:66661
Multiple Epiphyseal Dysplasia, Lowry Type
Dislocated radial head, Epiphyseal dysplasia, Fragmented epiphyses, Delayed epiphyseal ossificati... ORPHA:166016
Intellectual Developmental Disorder, X-Linked 12
Short stature, Depression, Anxiety, Gait disturbance, Tremor, Abnormality of neuronal migration OMIM:300957
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Polyhydramnios, Lymphedema, Facial edema, Edema OMIM:618154
Microphthalmia With Limb Anomalies
Sandal gap, Bowing of the long bones, Short long bone, Clinodactyly of the 5th finger, Talipes eq... ORPHA:1106
Laurin-Sandrow Syndrome
Preaxial foot polydactyly, Absent tibia, Absent radius, Preaxial hand polydactyly, Limb duplicati... ORPHA:2378
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Postnatal growth retardation, Intrauterine growth retardation OMIM:600546
Acute Myelomonocytic Leukemia
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis ORPHA:517
Atrial Fibrillation, Familial, 10
Permanent atrial fibrillation, Tricuspid regurgitation, Left ventricular hypertrophy, Atrial flut... OMIM:614022
Growth Hormone Deficiency, Isolated Partial
Postnatal growth retardation, Short stature OMIM:615925
Orofaciodigital Syndrome Ix
Hand polydactyly, Short tibia, Camptodactyly, Toe syndactyly OMIM:258865
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplasia of the radius, Hypoplasia of the ulna, Talipes equinovarus, Aplasia/Hypoplasia of the ... OMIM:609945
Atelosteogenesis Type Iii
Talipes equinovarus, Hand clenching, Absent humerus, Knee dislocation, Micrognathia, Distal taper... ORPHA:56305
Lissencephaly 6 With Microcephaly
Periventricular heterotopia, Polymicrogyria, Partial agenesis of the corpus callosum, Lissencepha... OMIM:616212
Kimura Disease
Eosinophilia, Follicular hyperplasia, Lymphadenopathy ORPHA:482
Pseudo-Torch Syndrome 3
Cerebral hemorrhage, Leukocytosis, Lymphadenitis, Congenital thrombocytopenia, Hypertension, Anem... OMIM:618886
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Left anterior fascicular block, Atrial arrhythmia, Premature ventricular contraction, Tachycardia... OMIM:616117
Juvenile Temporal Arteritis
Eosinophilia, Leukocytosis ORPHA:26137
Ulnar/Fibular Ray Defect And Brachydactyly
Atrial septal defect, Bilateral talipes equinovarus, Brachydactyly, Postaxial oligodactyly, Lower... OMIM:608571
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphocytosis, Abnormality of the lymph nodes, Eosinophilia, Hepatosplenomegaly, Autoimmune throm... ORPHA:911
Corneal Dystrophy, Fuchs Endothelial, 2
Edema OMIM:610158
Combined Oxidative Phosphorylation Deficiency 54
Dysplastic corpus callosum, Periventricular nodular heterotopia, Memory impairment, Tremor, Intra... OMIM:619737
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Acetabular spurs, Absent tibia, Talipes equinovarus, Metaphyseal spurs, Short ribs, Postaxial pol... OMIM:613091
Acheiropodia
Aplasia of the ulna, Absent hand, Upper limb phocomelia, Short humerus, Abnormal epiphysis morpho... ORPHA:931
Metaphyseal Acroscyphodysplasia
Cone-shaped metacarpal epiphyses, Cone-shaped epiphyses of the phalanges of the hand, Short toe, ... OMIM:250215
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Mesomelic arm shortening, Short humerus, Shoulder dislocation, G... OMIM:171480
Tularemia
Leukocytosis, Abnormal nasopharyngeal adenoid morphology, Anemia, Cervical lymphadenopathy, Tachy... ORPHA:3392
Acute Panmyelosis With Myelofibrosis
Lymphocytosis, Acute myelomonocytic leukemia, Splenomegaly, Pancytopenia, Bone marrow hypocellula... ORPHA:86843
Cardiomyopathy, Familial Hypertrophic, 4
Right atrial enlargement, Atrioventricular block, Hepatomegaly, Myofiber disarray, Left bundle br... OMIM:115197
Isolated Right Ventricular Hypoplasia
Right atrial enlargement, Congestive heart failure, Atrial septal defect, Tricuspid regurgitation... ORPHA:439
Diffuse Cutaneous Mastocytosis
Hepatomegaly, Lymphocytosis, Myeloproliferative disorder, Abnormality of the spleen, Hypotension,... ORPHA:79456
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Abnormal morphology of ulna, Micromelia, Synostosis of carpal bones, Abnormality of tibia morphol... ORPHA:2634
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Leukocytosis, Splenomegaly, Myeloproliferative disorder, Intracranial hemorrhage, A... ORPHA:3226
Yellow Nail Syndrome
Predominantly lower limb lymphedema, Lymphedema OMIM:153300
Congenital Muscular Dystrophy Without Intellectual Disability
Pachygyria, Gray matter heterotopia, Difficulty walking, Tip-toe gait ORPHA:370980
Cinca Syndrome
Patellar overgrowth, Leukocytosis, Eosinophilia, Hepatosplenomegaly, Anemia, Lymphadenopathy OMIM:607115
Subependymal Nodular Heterotopia
Partial agenesis of the corpus callosum, Gray matter heterotopia, Abnormality of neuronal migrati... ORPHA:101030
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the radius, Micrognathia, Short 5th finger, Hypoplasia of the ulna, Talipes, Radial... OMIM:227270
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Periventricular heterotopia, Impulsivity, Self-injurious behavior, Anxiety, Attention deficit hyp... OMIM:618929
Omodysplasia 1
Atrial septal defect, Limited knee flexion/extension, Increased fibular diameter, Micrognathia, L... OMIM:258315
Ivic Syndrome
Leukocytosis, Hypoplasia of the radius, Preaxial hand polydactyly, Synostosis of carpal bones, Ar... ORPHA:2307
Juvenile Arthritis
Thrombocytosis, Leukocytosis OMIM:618795
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Atrial septal defect, Tricuspid regurgitation, Short ribs, Brachydactyly, Postaxial polysyndactyl... OMIM:263520
Acquired Partial Lipodystrophy
Lymphocytosis ORPHA:79087
Femoral-Facial Syndrome
Coxa vara, Talipes equinovarus, Aplasia/Hypoplasia of the tibia, Short femur, Micrognathia, Radio... ORPHA:1988
Acromesomelic Dysplasia 3
Carpal synostosis, Short toe, Talipes equinovarus, Bilateral talipes equinovarus, Short 1st metac... OMIM:609441
Ivic Syndrome
Carpal synostosis, Short clavicles, Leukocytosis, Limited interphalangeal movement, Absent thumb,... OMIM:147750
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Cardiac shunt, Anomalous p... ORPHA:860
Omenn Syndrome
Short toe, Hepatomegaly, Leukocytosis, Splenomegaly, Eosinophilia, Abnormal lymphocyte morphology... ORPHA:39041
Purine Nucleoside Phosphorylase Deficiency
Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Splenomegaly, Cerebral vasculi... OMIM:613179
Familial Cold Autoinflammatory Syndrome 2
Lymphadenopathy, Leukocytosis, Splenomegaly OMIM:611762
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Flexion contracture of thumb, Hepatomegaly, Absent glenoid fossa, Clinodactyly of the 3rd finger,... ORPHA:96334
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Rickets of the lower limbs, Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossificat... OMIM:600785
Timothy Syndrome
Cutaneous syndactyly, Syndactyly, Tetralogy of Fallot, Ventricular septal defect, Patent foramen ... OMIM:601005
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Tibial bowing, Radial bowing, Splenomegaly, Micrognathia, Abnormality of fibula morphology, Abnor... ORPHA:3035
Unclassified Myelodysplastic Syndrome
Bone marrow hypocellularity, Acute myeloid leukemia, Leukocytosis ORPHA:98827
Primary Myelofibrosis
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hepatosplenomegaly, Throm... ORPHA:824
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Split foot, Aplasia/Hypoplasia of the fibula, Brachydactyly, Short phalanx of finger, Fibular apl... OMIM:113310
Aggressive Systemic Mastocytosis
Neutropenia, Abnormal mast cell morphology, Leukocytosis, Hepatosplenomegaly, Hypotension, Thromb... ORPHA:98850
Spondyloepimetaphyseal Dysplasia, Missouri Type
Coxa vara, Tibial bowing, Metaphyseal cupping, Radial bowing, Flared iliac wing, Femoral bowing, ... OMIM:602111
Familial Atrial Myxoma
Bacterial endocarditis, Congestive heart failure, Tricuspid regurgitation, Heart murmur, Pulmonic... ORPHA:615
Naxos Disease
Prolonged QRS complex, Congestive heart failure, Premature ventricular contraction, Right ventric... OMIM:601214
Lymphangiectasia, Pulmonary, Congenital
Facial edema, Chylothorax, Chylous ascites, Palpebral edema, Nonimmune hydrops fetalis, Polyhydra... OMIM:265300
X-Linked Lymphoproliferative Disease
Hemophagocytosis, Cervical lymphadenopathy, Aplastic anemia, Myocarditis, B lymphocytopenia, Incr... ORPHA:2442
Pyruvate Dehydrogenase E1-Beta Deficiency
Periventricular heterotopia, Ataxia, Pachygyria, Intrauterine growth retardation, Agenesis of cor... ORPHA:255138
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Talipes equinovarus, Bilateral talipes equinovarus, Mirror image foot polydactyly, Patellar hypop... OMIM:119800
Systemic Mastocytosis With Associated Hematologic Neoplasm
Abnormal mast cell morphology, Hepatomegaly, Neutrophilia, Splenomegaly, Leukocytosis, Myeloproli... ORPHA:98849
Stiff Person Spectrum Disorder
Agoraphobia, Exaggerated startle response, Anxiety, Falls, Difficulty walking, Emotional lability ORPHA:3198
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Narrow greater sciatic notch, Short ribs, Postaxial polydactyly, Micrognathia, Preaxial polydacty... OMIM:617925
Orofaciodigital Syndrome Type 2
Mesomelic leg shortening, Cone-shaped epiphyses of the phalanges of the hand, Broad first metatar... ORPHA:2751
Tropical Endomyocardial Fibrosis
Pulmonary venous hypertension, Hepatomegaly, Systolic heart murmur, Decreased QRS voltage, Pedal ... ORPHA:75565
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Intrauterine growth retardation, Periventricular heterotopia, Ataxia, Self-injurious behavior, Sh... OMIM:619833
Immunodeficiency 92
Hepatomegaly, Lymphocytosis, Leukocytosis, B lymphocytopenia, Thrombocytosis, Decreased proportio... OMIM:619652
Oculocerebrocutaneous Syndrome
Gray matter heterotopia, Agenesis of corpus callosum OMIM:164180
Attrv30M Amyloidosis
Atrioventricular block, Arrhythmia, Cardiomyopathy, Cardiomegaly ORPHA:85447
Complete Atrioventricular Septal Defect
Pulmonary venous hypertension, Hepatomegaly, Systolic heart murmur, Elevated pulmonary artery pre... ORPHA:1329
Familial Short Qt Syndrome
Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syncope, Ventricular fibrillation, At... ORPHA:51083
Radio-Tartaglia Syndrome
Gait imbalance, Ataxia, Gray matter heterotopia, Impulsivity, Tremor, Attention deficit hyperacti... OMIM:619312
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Abnormality of neuronal migration, Pachygyria, Short stature OMIM:608840
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Type II lissencephaly, Gray matter heterotopia, Dysgyria ORPHA:352682
Thrombocytopenia-Absent Radius Syndrome
Absent thumb, Atrioventricular canal defect, Hypoplasia of the radius, Femoral bowing, Ventricula... OMIM:274000
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Mental deterioration, Periventricular heterotopia, Agenesis of corpus callosum, Ataxia OMIM:618476
Dysplastic Cortical Hyperostosis
Abnormality of neuronal migration, Short stature ORPHA:2204
Danon Disease
Myocardial fibrosis, Wolff-Parkinson-White syndrome, Myocardial necrosis, Pes cavus, Arrhythmia, ... OMIM:300257
Cirrhotic Cardiomyopathy
Fourth heart sound, Right atrial enlargement, Hepatomegaly, Left ventricular hypertrophy, Left ve... ORPHA:57777
Refractory Anemia With Excess Blasts
Anemia of inadequate production, Leukocytosis, Palpitations, Abnormal mean corpuscular volume, Re... ORPHA:86839
Tay-Sachs Disease
Apathy, Psychomotor deterioration, Exaggerated startle response, Dementia OMIM:272800
Chiari Malformation Type Ii
Ataxia, Gray matter heterotopia, Agenesis of corpus callosum, Opisthotonus OMIM:207950
Ulna And Fibula, Hypoplasia Of
Hypoplasia of the ulna, Fibular hypoplasia OMIM:191400
Brain Small Vessel Disease 2
Growth delay, Subcortical heterotopia, Polymicrogyria OMIM:614483
3-Hydroxyisobutyric Aciduria
Abnormality of neuronal migration OMIM:236795
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis OMIM:619281
Cerebral Palsy, Spastic Quadriplegic, 3
Gray matter heterotopia, Cognitive impairment OMIM:617008
Sickle Cell Anemia
Hepatomegaly, Leukocytosis, Splenomegaly, Hemolytic anemia, Target cells, Hypertension, Cardiomeg... OMIM:603903
Ophthalmomandibulomelic Dysplasia
Radial bowing, Coxa valga, Lateral humeral condyle aplasia, Ulnar deviated club hands, Mesomelia,... OMIM:164900
Desmosterolosis
Severe short stature, Macrogyria, Abnormal cortical gyration, Polymicrogyria, Lissencephaly, Abno... ORPHA:35107
Tibial Hemimelia
Absent tibia OMIM:275220
Sickle Cell Anemia
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... ORPHA:232
Adult-Onset Still Disease
Hepatomegaly, Neutrophilia, Leukocytosis, Splenomegaly, Myocarditis, Generalized lymphadenopathy,... ORPHA:829
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Cervical lymphadenopathy, Ventricular septal defect, Facial telangiectasia, Rocker ... OMIM:602782
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Simplified gyral pattern, Gray matter heterotopia, Colpocephaly, Lissencephaly OMIM:615219
Fragile X Syndrome
Periventricular heterotopia, Hyperactivity, Self-biting OMIM:300624
Drug Reaction With Eosinophilia And Systemic Symptoms
Lymphocytosis, Eosinophilia, Myocarditis, Lymphadenopathy, Cardiac arrest ORPHA:139402
Walker-Warburg Syndrome
Macrogyria, Abnormal cortical gyration, Polymicrogyria, Lissencephaly, Abnormality of neuronal mi... ORPHA:899
Acromelic Frontonasal Dysostosis
Periventricular nodular heterotopia, Gray matter heterotopia, Agenesis of corpus callosum OMIM:603671
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormality of neuronal migration, Disproportionate short-limb short stature, Intrauterine growth... ORPHA:2772
Thanatophoric Dysplasia Type 2
Abnormality of neuronal migration, Short stature, Cognitive impairment ORPHA:93274
Familial Idiopathic Dilatation Of The Right Atrium
Right atrial enlargement, Atrioventricular block, Hepatomegaly, Complete heart block with narrow ... ORPHA:1677
Lissencephaly 5
Type II lissencephaly, Gray matter heterotopia, Subcortical band heterotopia OMIM:615191
Microphthalmia With Limb Anomalies
Tibial bowing, Talipes equinovarus, Hand oligodactyly, Camptodactyly of 2nd-5th fingers, Postaxia... OMIM:206920
Congenitally Corrected Transposition Of The Great Arteries
Mobitz I atrioventricular block, Heart murmur, Ventricular septal defect, Sick sinus syndrome, Ab... ORPHA:216694
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Leukocytosis, Splenomegaly OMIM:618042
Acquired Aneurysmal Subarachnoid Hemorrhage
Cerebral hemorrhage, Leukocytosis, ST segment depression, Left ventricular hypertrophy, Cerebral ... ORPHA:90065
Osteofibrous Dysplasia, Susceptibility To
Fibular hypoplasia, Pseudoarthrosis OMIM:607278
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Type II lissencephaly, Gray matter heterotopia, Agenesis of corpus callosum OMIM:615287
Peroxisome Biogenesis Disorder 13A (Zellweger)
Abnormality of neuronal migration OMIM:614887
Autoimmune Lymphoproliferative Syndrome
Abnormal proportion of CD8-positive T cells, Hepatomegaly, Lymphopenia, Coombs-positive hemolytic... ORPHA:3261
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Splenomegaly, Heinz bodies, Anisocytosis, Poikilocytosis, Fava bean-induced hemolyt... OMIM:300908
Eiken Syndrome
Delayed epiphyseal ossification, Long hallux, Delayed tarsal ossification, Delayed ossification o... OMIM:600002
16P13.11 Microdeletion Syndrome
Abnormality of neuronal migration, Self-injurious behavior, Agenesis of corpus callosum, Short st... ORPHA:261236
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Gray matter heterotopia, Polymicrogyria, Partial agenesis of the corpus callosum, Agyria, Type II... OMIM:614643
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Neutrophilia, Leukocytosis, Abnormally low T cell receptor excision circle level, Impaired neutro... OMIM:608203
Tetrasomy 18P
Abnormality of neuronal migration, Gait disturbance ORPHA:3307
Gaucher Disease, Type Iiic
Mitral stenosis, Aortic valve calcification, Hepatomegaly, Splenomegaly, Pes cavus, Mitral valve ... OMIM:231005
Gm2-Gangliosidosis, Ab Variant
Dystonia, Apathy, Exaggerated startle response, Dementia OMIM:272750
Cerebrofacioarticular Syndrome
Ataxia, Gray matter heterotopia, Dysplastic corpus callosum, Self-injurious behavior, Short statu... ORPHA:314679
Hydrolethalus Syndrome 1
Talipes equinovarus, Micrognathia, Accessory spleen, Proximal tibial hypoplasia, Upper limb under... OMIM:236680
Atelosteogenesis, Type I
Aplasia/Hypoplasia of the ulna, 11 pairs of ribs, Rhizomelia, Clubbing, Multinucleated giant chon... OMIM:108720
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Leukocytosis, Vasculitis, Increased proportion of CD4-positive T cells, Lymphadenop... OMIM:617099
Orofaciodigital Syndrome Type 6
Ataxia, Short stature, Hypothalamic hamartoma, Gait disturbance, Tremor, Abnormality of neuronal ... ORPHA:2754
Lymphatic Malformation 6
Facial edema, Chylothorax, Genital edema, Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, ... OMIM:616843
Congenital Muscular Dystrophy With Cerebellar Involvement
Type II lissencephaly, Gray matter heterotopia, Agenesis of corpus callosum, Polymicrogyria ORPHA:370959
Otopalatodigital Syndrome, Type Ii
Radial deviation of the 2nd finger, Femoral bowing, Congenital hip dislocation, Rudimentary fibul... OMIM:304120
Systemic Capillary Leak Syndrome
Leukocytosis, Arrhythmia, Myocarditis, Hypotension, Pedal edema, Pericarditis ORPHA:188
Vici Syndrome
Gray matter heterotopia, Agenesis of corpus callosum, Short stature ORPHA:1493
Periventricular Nodular Heterotopia 1
Abnormality of neuronal migration, Gray matter heterotopia OMIM:300049
Galloway-Mowat Syndrome
Short stature, Cognitive impairment, Abnormality of neuronal migration, Pachygyria, Intrauterine ... ORPHA:2065
Acalvaria
Abnormality of neuronal migration ORPHA:945
Fibrochondrogenesis 1
Short palm, Clinodactyly of the 5th finger, Narrow greater sciatic notch, Short ribs, Small hand,... OMIM:228520
Kikuchi-Fujimoto Disease
Hepatomegaly, Lymphocytosis, Vasculitis in the skin, Splenomegaly, Cervical lymphadenopathy, Abno... ORPHA:50918
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Blepharospasm, Exaggerated startle response, Oculogyric crisis, Athetosis, Choreoath... OMIM:608643
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response, Polymicrogyria, Type II lissencephaly, Agyria, Lissencephaly, Pachy... OMIM:253800
Li-Ghorbani-Weisz-Hubshman Syndrome
Periventricular heterotopia, Attention deficit hyperactivity disorder OMIM:618974
Wolcott-Rallison Syndrome
Double outlet right ventricle, Metaphyseal dysplasia, Hepatomegaly, Lymphocytosis, Atrial septal ... ORPHA:1667
Necrotizing Enterocolitis
Leukocytosis, Hypotension, Shock, Bradycardia, Neutropenia, Thrombocytopenia, Abnormal heart morp... ORPHA:391673
Glycogen Storage Disease Of Heart, Lethal Congenital
Congestive heart failure, Hypotension, Shortened PR interval, Biventricular hypertrophy, Cardiomy... OMIM:261740
Acrofacial Dysostosis, Rodríguez Type
Aplasia/Hypoplasia of the ulna, Microretrognathia, Talipes equinovarus, Hand oligodactyly, Radiou... ORPHA:1788
Neonatal Adrenoleukodystrophy
Abnormality of neuronal migration, Short stature ORPHA:44
Brachymesomelia-Renal Syndrome
Hypoplasia of the radius, Micrognathia, Mesomelic arm shortening, Fibular hypoplasia, Ulnar bowing OMIM:113470
Leber Congenital Amaurosis
Abnormality of neuronal migration ORPHA:65
Congenital Disorder Of Deglycosylation 2
Partial agenesis of the corpus callosum, Gray matter heterotopia, Polymicrogyria, Hypothalamic ha... OMIM:619775
Tay-Sachs Disease
Inability to walk, Laryngeal dystonia, Exaggerated startle response, Dysmetria, Depression, Anxie... ORPHA:845
Acro-Renal-Mandibular Syndrome
Split foot, Hypoplasia of the radius, Micrognathia, Rudimentary fibula, Rudimentary to absent tib... ORPHA:958
Joubert Syndrome
Ataxia, Polymicrogyria, Gait disturbance, Tremor, Abnormality of neuronal migration ORPHA:475
Stiff-Person Syndrome
Agoraphobia, Exaggerated startle response, Opisthotonus, Depression, Anxiety OMIM:184850
Orofaciodigital Syndrome X
Preaxial hand polydactyly, Coalescence of tarsal bones, Fibular aplasia, Hand oligodactyly OMIM:165590
Beta-Thalassemia Intermedia
Anemia of inadequate production, Decreased mean corpuscular volume, High-output congestive heart ... ORPHA:231222
Hypomelanosis Of Ito
Gray matter heterotopia OMIM:300337
Thanatophoric Dysplasia
Disproportionate short-limb short stature, Gray matter heterotopia, Intrauterine growth retardation ORPHA:2655
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Hepatomega... ORPHA:555874
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Abnormality of neuronal migration, Cognitive impairment ORPHA:2063
Developmental Delay With Variable Neurologic And Brain Abnormalities
Gray matter heterotopia OMIM:619694
Agammaglobulinemia, X-Linked
Cor pulmonale, B lymphocytopenia, T lymphocytopenia, Neutropenia, Lymph node hypoplasia, Anemia OMIM:300755
Occipital Horn Syndrome
Coxa vara, Large iliac wing, Coxa valga, Aplasia/hypoplasia of the humerus, Abnormality of the pu... ORPHA:198
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
Meige Disease
Lymph node hypoplasia, Pedal edema, Absence of lymph node germinal center ORPHA:90186
Kyphomelic Dysplasia
Tibial bowing, Radial bowing, Talipes equinovarus, Short femur, Femoral bowing, Micrognathia, Sho... OMIM:211350
Carnitine Palmitoyltransferase Ii Deficiency
Abnormality of neuronal migration, Pachygyria, Agenesis of corpus callosum, Polymicrogyria ORPHA:157
Aorta Coarctation
Bicuspid aortic valve, Hypoplastic left heart, Aortic valve atresia, Tetralogy of Fallot, Hyperte... ORPHA:1457
9Q21.13 Microdeletion Syndrome
Postnatal growth retardation, Difficulty walking, Gray matter heterotopia ORPHA:531151
Edinburgh Malformation Syndrome
Abnormality of neuronal migration ORPHA:1895
Man1B1-Cdg
Broad-based gait, Periventricular heterotopia, Resting tremor ORPHA:397941
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Abnormality of neuronal migration, Intrauterine growth retardation, Short stature ORPHA:2518
Neu-Laxova Syndrome
Opisthotonus, Polymicrogyria, Abnormal cortical gyration, Lissencephaly, Abnormality of neuronal ... ORPHA:2671
3C Syndrome
Abnormality of neuronal migration, Postnatal growth retardation, Short stature ORPHA:7
Coffin-Lowry Syndrome
Abnormality of neuronal migration, Gait disturbance, Self-injurious behavior, Short stature ORPHA:192
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Broad-based gait, Ataxia, Exaggerated startle response, Anxiety, Dystonia ORPHA:438216
Phocomelia, Schinzel Type
Aplasia of the ulna, Ectrodactyly, Radial bowing, Hand oligodactyly, Hypoplasia of the radius, Mi... ORPHA:2879
6Q Terminal Deletion Syndrome
Periventricular heterotopia, Gray matter heterotopia, Dysmetria, Polymicrogyria, Gait ataxia, Abn... ORPHA:75857
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Abnormality of neuronal migration, Agenesis of corpus callosum, Polymicrogyria OMIM:608836
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Metaphyseal irregularity, Cone-shaped epiphyses of the phalanges of the hand, Short ribs, Pulmona... OMIM:208500
Bohring-Opitz Syndrome
Gray matter heterotopia, Short stature, Mesomelic/rhizomelic limb shortening, Intrauterine growth... OMIM:605039
Heterotaxy, Visceral, 1, X-Linked
Hepatomegaly, Atrioventricular canal defect, Congenital hip dislocation, Enlarged kidney, Ventric... OMIM:306955
Acrorenal-Mandibular Syndrome
Split foot, Hypoplasia of the radius, Micrognathia, Hand polydactyly, Rudimentary fibula, Rudimen... OMIM:200980
Absence Of The Pulmonary Artery
Abnormal cardiac septum morphology, Congestive heart failure, Atrial septal defect, Systolic hear... ORPHA:980
Koolen-De Vries Syndrome
Conspicuously happy disposition, Gray matter heterotopia, Impulsivity, Hyperactivity, Short statu... OMIM:610443
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Abnormality of neuronal migration, Pachygyria, Agenesis of corpus callosum, Polymicrogyria ORPHA:228308
Campomelic Dysplasia
Small abnormally formed scapulae, Tibial bowing, Talipes equinovarus, Femoral bowing, Micrognathi... ORPHA:140
Thanatophoric Dysplasia, Type I
Disproportionate short-limb short stature, Gray matter heterotopia, Neonatal death, Lethal short-... OMIM:187600
Poretti-Boltshauser Syndrome
Gray matter heterotopia OMIM:615960
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Periventricular heterotopia, Self-injurious behavior, Severe short stature, Polymicrogyria, Lisse... ORPHA:468631
Joubert Syndrome 30
Gray matter heterotopia OMIM:617622
Onychotrichodysplasia And Neutropenia
Chronic neutropenia, Lymphocytosis, Neutropenia OMIM:258360
Crimean-Congo Hemorrhagic Fever
Melena, Hepatomegaly, Neutrophilia, Hemoperitoneum, Subdural hemorrhage, Hemothorax, Myocarditis,... ORPHA:99827
Alg11-Cdg
Ataxia, Gray matter heterotopia, Opisthotonus ORPHA:280071
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Abnormal cortical gyration, Polymicrogyria, Lissencephaly, Abnormality of neuronal migration, Pac... ORPHA:2211
Acromelic Frontonasal Dysplasia
Patellar hypoplasia, Preaxial foot polydactyly, Talipes equinovarus, Aplasia/Hypoplasia of the tibia ORPHA:1827
Campomelic Dysplasia
Femoral bowing, Short 1st metacarpal, 11 pairs of ribs, Bowing of the long bones, Anterior tibial... OMIM:114290
Van Maldergem Syndrome 1
Growth delay, Gray matter heterotopia, Periventricular nodular heterotopia, Subcortical band hete... OMIM:601390
Neuromuscular Oculoauditory Syndrome
Periventricular heterotopia, Agenesis of corpus callosum, Unsteady gait OMIM:618733
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Periventricular heterotopia, Attention deficit hyperactivity disorder, Short stature OMIM:618870
Truncus Arteriosus
Abnormal heart valve physiology, Atrial septal defect, Right ventricular hypertrophy, Pulmonic st... ORPHA:3384
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Gray matter heterotopia, Short stature, Neonatal death, Frontal polymicrogyria, Pachygyria, Dystonia OMIM:620024
Charge Syndrome
Double outlet right ventricle, Absent tibia, Secundum atrial septal defect, Atrial septal defect,... OMIM:214800
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Anxiety, Birth length less than 3rd percentile, Gait disturbance, Attention deficit hyperactivity... ORPHA:464311
Schneckenbecken Dysplasia
Hypoplastic vertebral bodies, Short ribs, Increased fibular diameter, Hypoplastic ilia, Micromeli... ORPHA:3144
Vici Syndrome
Growth delay, Gray matter heterotopia, Agenesis of corpus callosum OMIM:242840
Opitz-Kaveggia Syndrome
Partial agenesis of the corpus callosum, Gray matter heterotopia, Attention deficit hyperactivity... OMIM:305450
Joubert Syndrome With Oculorenal Defect
Abnormality of neuronal migration, Ataxia ORPHA:2318
Orofaciodigital Syndrome Xvi
Ataxia, Gray matter heterotopia, Inability to walk OMIM:617563
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Hypoplasia of the radius, Femoral bowing, Aplasia/Hypoplasia of the phalanges of the hand, Carpal... OMIM:276820
Joubert Syndrome With Hepatic Defect
Abnormality of neuronal migration, Tremor, Ataxia, Gait disturbance ORPHA:1454
Sandhoff Disease
Ataxia, Exaggerated startle response, Progressive psychomotor deterioration OMIM:268800
Pyomyositis
Sudden cardiac death, Leukocytosis, Recurrent cutaneous abscess formation ORPHA:764
Multiple Acyl-Coa Dehydrogenase Deficiency
Fatigable weakness of neck muscles, Gray matter heterotopia, Inability to walk ORPHA:26791
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response, Short stature OMIM:618367
16Q24.3 Microdeletion Syndrome
Periventricular heterotopia, Colpocephaly ORPHA:261250
Aicardi Syndrome
Gray matter heterotopia, Polymicrogyria, Partial agenesis of the corpus callosum, Postnatal growt... OMIM:304050
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Lymphocytosis, Iron deficiency anemia, Thrombocytosis, Perianal abscess, Reduced natural killer c... OMIM:301074
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Inability to walk, Exaggerated startle response OMIM:609541
Genitourinary And/Or Brain Malformation Syndrome
Gray matter heterotopia, Dysplastic corpus callosum, Polymicrogyria, Attention deficit hyperactiv... OMIM:618820
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Abnormal cortical gyration, Cognitive impairment OMIM:617527
Asparagine Synthetase Deficiency
Simplified gyral pattern, Exaggerated startle response OMIM:615574
Spastic Tetraplegia And Axial Hypotonia, Progressive
Ataxia, Exaggerated startle response OMIM:618598
Alkuraya-Kucinskas Syndrome
Gray matter heterotopia, Lissencephaly OMIM:617822
Periventricular Nodular Heterotopia
Periventricular heterotopia ORPHA:98892
Van Maldergem Syndrome 2
Periventricular nodular heterotopia, Gray matter heterotopia, Growth delay, Subcortical band hete... OMIM:615546
Nijmegen Breakage Syndrome
Mental deterioration, Attention deficit hyperactivity disorder, Abnormality of neuronal migration... ORPHA:647
Thanatophoric Dysplasia Type 1
Gray matter heterotopia, Lethal short-limbed short stature ORPHA:1860
Kawasaki Disease
Leukocytosis, Double outlet right ventricle with subpulmonary ventricular septal defect without p... ORPHA:2331
Neurocutaneous Melanocytosis
Abnormality of neuronal migration ORPHA:2481
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Difficulty walking, Exaggerated startle response ORPHA:320406
Orofaciodigital Syndrome I
Gray matter heterotopia, Short stature, Hypothalamic hamartoma, Abnormal cortical gyration, Agene... OMIM:311200
Miller-Dieker Lissencephaly Syndrome
Gray matter heterotopia, Agyria, Lissencephaly, Pachygyria, Intrauterine growth retardation OMIM:247200
Pseudo-Torch Syndrome 2
Gray matter heterotopia, Polymicrogyria OMIM:617397
Peroxisome Biogenesis Disorder 1A (Zellweger)
Unsteady gait, Loss of ambulation, Gray matter heterotopia, Polymicrogyria OMIM:214100
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Periventricular Nodular Heterotopia 9
Broad-based gait, Gray matter heterotopia, Periventricular nodular heterotopia, Polymicrogyria, A... OMIM:618918
Mismatch Repair Cancer Syndrome 1
Gray matter heterotopia, Agenesis of corpus callosum OMIM:276300
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Stillbirth, Gray matter heterotopia, Disproportionate short stature, Pachygyria, Intrauterine gro... OMIM:210710
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Cranioectodermal Dysplasia 1
Short distal phalanx of finger, Bicuspid aortic valve, Short toe, Hepatomegaly, Short ribs, Short... OMIM:218330
Holoprosencephaly
Abnormality of neuronal migration, Dystonia, Cognitive impairment ORPHA:2162
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Gray matter heterotopia OMIM:618797
Liver Disease, Severe Congenital
Abnormal left ventricular function, Hepatomegaly, Atrial septal defect, Lymphocytosis, Splenomega... OMIM:619991
Bilateral Perisylvian Polymicrogyria
Bilateral perisylvian polymicrogyria, Dysmetria, Abnormality of neuronal migration, Perisylvian p... ORPHA:98889
Camptodactyly Syndrome, Guadalajara, Type I
Absent ethmoidal sinuses, Short metatarsal, Camptodactyly of 2nd-5th fingers, Brachydactyly, Shor... OMIM:211910
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Growth delay, Gray matter heterotopia, Inability to walk, Agenesis of corpus callosum ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Growth delay, Gray matter heterotopia, Inability to walk, Agenesis of corpus callosum ORPHA:352665
Osteopathia Striata With Cranial Sclerosis
Clinodactyly of the 5th finger, Atrial septal defect, Talipes equinovarus, Paranasal sinus hypopl... OMIM:300373
Holoprosencephaly 14
Partial agenesis of the corpus callosum, Periventricular heterotopia, Gray matter heterotopia OMIM:619895
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Plaa-Associated Neurodevelopmental Disorder
Dystonia, Exaggerated startle response, Abnormal cortical gyration ORPHA:521426
Orofaciodigital Syndrome Type 4
Aplasia/Hypoplasia of the tibia, Finger syndactyly, Micrognathia, Preaxial hand polydactyly, Camp... ORPHA:2753
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Gray matter heterotopia OMIM:608624
Smith-Lemli-Opitz Syndrome
Intrauterine growth retardation, Periventricular heterotopia, Hyperactivity, Self-mutilation, Sho... OMIM:270400
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Congenital Total Pulmonary Venous Return Anomaly
Hepatomegaly, Supracardiac total anomalous pulmonary venous connection, Ventricular septal defect... ORPHA:99125
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Gray matter heterotopia, Intrauterine growth retardation ORPHA:453499
Gm1 Gangliosidosis Type 1
Intrauterine growth retardation, Exaggerated startle response ORPHA:79255
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hypoplasia of proximal radius, Small hand, Micrognathia, Brachydactyly, Ventricular septal defect... ORPHA:444077
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response OMIM:617301
Ventriculomegaly With Cystic Kidney Disease
Gray matter heterotopia OMIM:219730
Arima Syndrome
Ataxia, Gray matter heterotopia OMIM:243910
Fontaine Progeroid Syndrome
Periventricular heterotopia, Gray matter heterotopia, Short stature, Neonatal death, Intrauterine... OMIM:612289
Pagod Syndrome
Abnormality of neuronal migration, Short stature ORPHA:991
Genitopatellar Syndrome
Periventricular heterotopia, Colpocephaly, Agenesis of corpus callosum OMIM:606170
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response, Short stature, Attention deficit hyperactivity disorder, Growth del... OMIM:619522
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Abnormality of neuronal migration ORPHA:3186
Orofaciodigital Syndrome Type 14
Partial agenesis of the corpus callosum, Periventricular heterotopia ORPHA:434179
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Broad-based gait, Inability to walk, Exaggerated startle response, Short stature, Dystonia ORPHA:438213
Mowat-Wilson Syndrome
Broad-based gait, Happy demeanor, Periventricular heterotopia, Ataxia, Inability to walk, Short s... ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Broad-based gait, Happy demeanor, Periventricular heterotopia, Inability to walk, Short stature, ... ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Broad-based gait, Happy demeanor, Periventricular heterotopia, Inability to walk, Short stature, ... ORPHA:261552
Orofaciodigital Syndrome Xiv
Simplified gyral pattern, Periventricular heterotopia, Polymicrogyria OMIM:615948
Proteus Syndrome
Gray matter heterotopia ORPHA:744

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 Ywhaz

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 Ywhaz.

There are 3 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
14-3-3ζ Constrains insulin secretion by regulating mitochondrial function in pancreatic β cells. JCI insight (April 2022) Ywhaztm1c(EUCOMM)Hmgu PMC9089799
Proteotyping of knockout mouse strains reveals sex- and strain-specific signatures in blood plasma. NPJ systems biology and applications (May 2021) Ywhaztm1b(EUCOMM)Hmgu PMC8163790
Reducing 14-3-3ζ expression influences adipocyte maturity and impairs function. American journal of physiology. Endocrinology and metabolism (May 2020) Ywhaztm1c(EUCOMM)Hmgu 32369418

Order Mouse and ES Cells

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

This service may be affected by the Covid-19 pandemic. See how

MGI Allele Allele Type Produced
Ywhaztm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Ywhaztm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice, Tissue
Ywhaztm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

The IMPC Newsletter

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

Subscribe to newsletter