banner
Genes Phenotypes Help, News, Blog

Gene: Atp6v0d1 MGI:1201778

Log in to follow

Gene Summary

Name:
ATPase, H+ transporting, lysosomal V0 subunit D1
Synonyms:
Vma6,  lysosomal 38kDa,  Atp6d,  P39,  Ac39

Order Alleles

IMPC Data Collections

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
decreased lymphocyte cell number Atp6v0d1tm1b(EUCOMM)Hmgu HET Early adult 2.06×10-06
embryonic lethality prior to organogenesis Atp6v0d1tm1b(EUCOMM)Hmgu HOM   E9.5 0.00
abnormal seminal vesicle morphology Atp6v0d1tm1b(EUCOMM)Hmgu HET Early adult 0.00
preweaning lethality, complete penetrance Atp6v0d1tm1b(EUCOMM)Hmgu HOM   Early adult 0.00
embryonic lethality prior to tooth bud stage Atp6v0d1tm1b(EUCOMM)Hmgu HOM   E12.5 0.00
increased neutrophil cell number Atp6v0d1tm1b(EUCOMM)Hmgu HET Early adult 1.35×10-09
increased startle reflex Atp6v0d1tm1b(EUCOMM)Hmgu HET   Early adult 9.03×10-05
abnormal kidney morphology Atp6v0d1tm1b(EUCOMM)Hmgu HET Early adult 0.00
short tibia Atp6v0d1tm1b(EUCOMM)Hmgu HET Early adult 1.68×10-05
decreased mean corpuscular hemoglobin concentration Atp6v0d1tm1b(EUCOMM)Hmgu HET Early adult 7.27×10-05

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 0.0% (0 of 2)
Brain N/A heterozygote 66.67% (2 of 3)
Central nervous system ganglion N/A heterozygote 100% (2 of 2)
Ear N/A heterozygote 66.67% (2 of 3)
Embryo N/A heterozygote 100% (3 of 3)
Eye N/A heterozygote 66.67% (2 of 3)
Footplate N/A heterozygote 66.67% (2 of 3)
Forebrain N/A heterozygote 66.67% (2 of 3)
Forelimb N/A heterozygote 66.67% (2 of 3)
Gut N/A heterozygote 100% (2 of 2)
Handplate N/A heterozygote 66.67% (2 of 3)
Head N/A heterozygote 66.67% (2 of 3)
Heart N/A heterozygote 66.67% (2 of 3)
Hindbrain N/A heterozygote 66.67% (2 of 3)
Hindlimb N/A heterozygote 66.67% (2 of 3)
Liver N/A heterozygote 66.67% (2 of 3)
Lung N/A heterozygote 66.67% (2 of 3)
Mandibular process N/A heterozygote 0.0% (0 of 3)
Maxillary process N/A heterozygote 0.0% (0 of 3)
Midbrain N/A heterozygote 66.67% (2 of 3)
Nose N/A heterozygote 100% (2 of 2)
Oral cavity N/A heterozygote 66.67% (2 of 3)
Chorioallantoic placenta N/A heterozygote 100% (2 of 2)
Skeleton N/A heterozygote 100% (2 of 2)
Skin N/A heterozygote 66.67% (2 of 3)
Spinal cord N/A heterozygote 100% (2 of 2)
Tail somite N/A heterozygote 66.67% (2 of 3)
Tail N/A heterozygote 0.0% (0 of 3)
Trachea N/A heterozygote 100% (2 of 2)
Urinary system N/A heterozygote 100% (2 of 2)

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 1.17% (6 of 511)
central nervous system ganglion 1.37% (1 of 73)
ear 0.2% (1 of 511)
embryo 0.39% (2 of 512)
eye 0.2% (1 of 511)
footplate 0.2% (1 of 511)
forebrain 0.2% (1 of 511)
forelimb 0.2% (1 of 511)
gut 1.69% (1 of 59)
handplate 0.2% (1 of 511)
head 0.98% (5 of 511)
heart 0.2% (1 of 511)
hindbrain 1.17% (6 of 511)
hindlimb 0.2% (1 of 511)
liver 0.2% (1 of 506)
lung 0.2% (1 of 506)
mandibular process 0.2% (1 of 511)
maxillary process 0.2% (1 of 511)
midbrain 0.2% (1 of 511)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 506)
placenta 16.67% (7 of 42)
skeleton 1.28% (1 of 78)
skin 0.2% (1 of 511)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 511)
tail somite group 0.2% (1 of 511)
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.

Download thumbnail Download
Immunophenotyping

Panel B FCS file(s)

6 Images

View images
X-ray

XRay Images Skull Lateral Orientation

10 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

10 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

10 Images

View images
X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

View images
Eye Morphology

Images Ophthalmoscopy

5 Images

View images
Embryo LacZ

LacZ images wholemount

12 Images

View images
Download thumbnail Download
Immunophenotyping

Panel A FCS file(s)

6 Images

View images
Histopathology

Images

4 Images

View images
Gross Pathology and Tissue Collection

Images

10 Images

View images

Human diseases caused by Atp6v0d1 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 Atp6v0d1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hemoglobin D Disease
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... ORPHA:90039
Syndactyly Type 4
Triphalangeal thumb, Camptodactyly of finger, Short tibia, Foot polydactyly, Toe syndactyly, Hand... ORPHA:93405
Acrocapitofemoral Dysplasia
Short tibia, Flared iliac wing, Short proximal phalanx of finger, Short femur, Enlargement of the... OMIM:607778
Acromesomelic Dysplasia 2C
Short tibia, Short foot, Hypoplasia of the radius, Radial bowing, Cuboidal metacarpal, Hip disloc... OMIM:201250
Acromesomelic Dysplasia 2A
Short tibia, Short phalanx of finger, Aplasia/Hypoplasia involving the metacarpal bones, Hypoplas... OMIM:200700
Osebold-Remondini Syndrome
Short tibia, Short toe, Short phalanx of finger, Hypoplasia of the radius, Carpal synostosis, Hyp... OMIM:112910
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short tibia, Short 4th metacarpal, Short long bone, Epiphyseal stippling, Short 3rd metacarpal, L... OMIM:118651
Acromesomelic Dysplasia, Grebe Type
Short tibia, Short toe, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia involving the metacar... ORPHA:2098
Immunodeficiency 18
Lymphopenia, Decreased proportion of CD3-positive T cells OMIM:615615
Fibular Hemimelia
Short tibia, Hip subluxation, Limited knee flexion/extension, Hypoplastic acetabulae, Toe syndact... ORPHA:93323
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Short tibia, Absent thumb, Short femur, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius,... OMIM:612447
Leri-Weill Dyschondrosteosis
Short tibia, Short toe, Short 4th metacarpal, Coxa valga, Abnormal carpal morphology, Hypoplasia ... OMIM:127300
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Endove Syndrome, Limb-Only Type
Aplasia of the distal phalanges of the toes, Vesicoureteral reflux, Disproportionate shortening o... OMIM:619217
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Léri-Weill Dyschondrosteosis
Short tibia, Abnormal carpal morphology, Abnormal metaphysis morphology, Genu valgum, Abnormality... ORPHA:240
Langer Mesomelic Dysplasia
Short tibia, Broad ulna, Short femoral neck, Hypoplasia of the radius, Micrognathia, Radial bowin... OMIM:249700
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Lethal Faciocardiomelic Dysplasia
Short tibia, Radial club hand, Short 5th finger, Hypoplasia of the radius, Microretrognathia, Hyp... ORPHA:1972
Acheiropody
Short tibia, Aplasia of the phalanges of the hand, Absent toe, Aplasia of metacarpal bones, Aplas... OMIM:200500
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Short tibia, Foot oligodactyly, Hand oligodactyly, Syndactyly, Fibular aplasia, Tibial bowing OMIM:246570
Tibial Hemimelia
Short tibia, Polydactyly, Ambiguous genitalia, Coxa valga, Hip dislocation, Metatarsus adductus, ... ORPHA:93322
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio OMIM:613978
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Short tibia, Hypoplasia of the radius, Lytic defects of humeral diaphysis, Short femur, Hypoplasi... OMIM:601376
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... OMIM:603902
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Short tibia, Hypoplasia of the radius, Pseudoarthrosis OMIM:156230
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi... ORPHA:2133
Immunodeficiency 24
Reduced proportion of mucosal-associated invariant T cells, Decreased CD4:CD8 ratio, Decreased pr... OMIM:615897
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Triphalangeal thumb, Short tibia, Absent tibia, Preaxial polydactyly, Fibular duplication OMIM:188740
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Mesomelic Dysplasia, Savarirayan Type
Short tibia, Abnormal foot morphology, Hip dislocation, Talipes equinovalgus, Dislocated radial h... OMIM:605274
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia, Metaphyseal chondrodysplasia OMIM:200900
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Thrombocytopenia, Abnormal hemoglobin ORPHA:3319
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia ORPHA:231242
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Delta-Beta-Thalassemia
Anemia, Abnormal hemoglobin, Microcytic anemia ORPHA:231237
Orofaciodigital Syndrome Type 10
Short tibia, Short toe, Mesomelic leg shortening, Micrognathia, Metatarsal synostosis, Oligodacty... ORPHA:2756
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Dyschondrosteosis And Nephritis
Short tibia, Short forearm, Radial bowing, Ulnar bowing, Nephritis OMIM:127350
Congenital Disorder Of Glycosylation, Type Ig
Short tibia, Small scrotum, Rhizomelia, Short ribs, Hypoplasia of the radius, Short femur, Hyposp... OMIM:607143
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the tibia, Hand monodactyly, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia ... ORPHA:1986
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Immunodeficiency 50
Neutropenia, Lymphopenia OMIM:300988
Orofaciodigital Syndrome Viii
Short tibia, Polydactyly, Syndactyly OMIM:300484
Immunodeficiency 110 With Lymphoproliferation
Neutropenia, Lymphopenia OMIM:614868
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Plasmacytosis, Glomerulonephritis, Autoimmune hemolytic anemia, Lymphopenia OMIM:247800
Acrofacial Dysostosis Syndrome Of Rodriguez
Short tibia, 11 pairs of ribs, Triphalangeal thumb, Micrognathia, Clinodactyly, Oligodactyly, Ove... OMIM:201170
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia ORPHA:231401
Laurin-Sandrow Syndrome
Triphalangeal thumb, Broad foot, Patellar aplasia, Absent tibia, Hand polydactyly, Syndactyly, Ab... OMIM:135750
Weismann-Netter Syndrome
Anemia, Abnormality of the humerus, Tibial bowing, Femoral bowing, Abnormal morphology of ulna, A... ORPHA:3344
Reticular Dysgenesis
Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus, Lymphopenia OMIM:267500
Short Rib-Polydactyly Syndrome
Short tibia, Polydactyly, Abnormal pelvis bone ossification, Limb undergrowth, Nephronophthisis, ... ORPHA:1505
Immunodeficiency 21
Reduced natural killer cell count, Anemia, Myeloid leukemia, Monocytopenia, B lymphocytopenia, Ce... OMIM:614172
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Short tibia, Short toe, Short phalanx of finger, Absent toe, Short metacarpal, Absent tibia, Camp... OMIM:612576
Alpha-Thalassemia
Anemia, Hemolytic anemia, Hypersplenism, Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Micro... ORPHA:846
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Anemia, Congenital thrombocytopenia, Short middle phalanx of the 4th finger, Radioulnar synostosi... OMIM:616738
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Acute monocytic leukemia, Thrombocytosis, Eosinophilia, Monocytosis, Congenital agranuloc... OMIM:202700
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the tibia, Preaxial hand polydactyly, Finger syndactyly, Patellar aplasia, ... ORPHA:3329
Cyanosis, Transient Neonatal
Methemoglobinemia, Anemia, Reticulocytosis OMIM:613977
Microphthalmia With Limb Anomalies
Short tibia, Toe syndactyly, Micrognathia, Hip dislocation, Postaxial hand polydactyly, Talipes e... ORPHA:1106
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Anemia, Enlarged kidney, Extramedullary hematopoiesis, Thrombocytopenia, Neutropenia,... OMIM:615285
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Micrognathia, Persistence of hemoglobin F, Unilateral cryptorchidism, Macrocytic anemia, Increase... OMIM:300946
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Short phalanx of finger, Toe syndactyly, Micrognathia, Flared iliac wing, Aplasia/hypoplasia of t... OMIM:609945
Slc35A2-Cdg
Short tibia, Camptodactyly of finger, Hip subluxation, Precocious puberty, Coxa valga, Abnormal l... ORPHA:356961
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Toe syndactyly, Aplasia/hypoplasia of the femur, Postaxial hand polydactyly, Talipes equinovarus,... OMIM:228930
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, HbH hemoglobin, Reduced alpha/beta synthesis ratio OMIM:300448
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenome... ORPHA:444463
Orofaciodigital Syndrome Iv
Short tibia, Toe syndactyly, Micrognathia, Foot polydactyly, Short finger, Hand polydactyly, Clin... OMIM:258860
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic... ORPHA:251380
Laurin-Sandrow Syndrome
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Preaxial hand polydactyly, Limb duplication... ORPHA:2378
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Coxa vara, Micrognathia, Polycystic kidney dysplasia, Hip dyspla... ORPHA:1988
Anemia, Congenital Dyserythropoietic, Type Iv
Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated red blood cells, Erythroid hy... OMIM:613673
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Persistence of hemoglobin F, Pigment gallstones, Chronic hemol... ORPHA:232
Immunodeficiency 8 With Lymphoproliferation
Lymphopenia OMIM:615401
Spondyloepimetaphyseal Dysplasia, Missouri Type
Genu varum, Metaphyseal irregularity, Short lower limbs, Tibial bowing, Femoral bowing, Flared me... ORPHA:93356
Immunodeficiency 105
Increased B cell count, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, ... OMIM:619924
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Ambiguous genitalia, Cone-shaped epiphysis, Postaxial polydactyly, Short ribs, Short long bone, E... OMIM:613091
Acquired Idiopathic Sideroblastic Anemia
Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Normocytic anemia, Eryt... ORPHA:75564
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Short tibia, Ambiguous genitalia, Rhizomelia, Short ribs, Short long bone, Flat acetabular roof, ... OMIM:616300
Transcobalamin Deficiency
Acute kidney injury, Pancytopenia, Lymphopenia, Thrombocytopenia, Methylmalonic aciduria, Neutrop... ORPHA:859
Bent Bone Dysplasia Syndrome 2
Short tibia, Short sternum, Hypoplastic iliac wing, Hypoplastic acetabulae, Short 1st metacarpal,... OMIM:620076
Anemia, Sideroblastic, 5
Anemia, Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Neutropenia OMIM:619523
Cernunnos-Xlf Deficiency
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia ORPHA:169079
Metaphyseal Dysplasia, Braun-Tinschert Type
Broad tibial metaphyses, Broad femoral head, Fibular bowing, Exostoses of the radius, Increased u... ORPHA:85188
Methemoglobinemia And Ambiguous Genitalia
Scrotal hypospadias, Ambiguous genitalia, Bifid scrotum, Hypospadias, Male pseudohermaphroditism,... OMIM:250790
Bone Marrow Failure Syndrome 6
Anemia, Lymphopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia OMIM:618849
Acromesomelic Dysplasia 2B
Short phalanx of finger, Deviation of finger, Malaligned carpal bone, Patellar dislocation, Rhizo... OMIM:228900
Refractory Anemia
Neutropenia, Normocytic anemia, Erythroid hypoplasia, Macrocytic anemia, Thrombocytopenia, Anemia... ORPHA:98826
Stuve-Wiedemann Syndrome 1
Short tibia, Short phalanx of finger, Micrognathia, Metaphyseal rarefaction, Camptodactyly, Hypop... OMIM:601559
Eiken Syndrome
Short phalanx of finger, Broad foot, Short toe, Metaphyseal irregularity, Abnormal fingertip morp... ORPHA:79106
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Patellar aplasia, Hand monodactyly, Absent tibia, Short hallux, Split foot, Split hand, Aplasia o... OMIM:119100
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Coombs-positive hemolytic anemia, Decreased proporti... OMIM:617514
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Coxa valga, Patellar dislocation, Finger syndactyly, Tibial torsion, Micrognathia, Hi... ORPHA:3320
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, Neutropenia, B lymphocytopenia OMIM:613107
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the tibia, Aplasia/Hypoplasia of the thumb, Patellar aplasia, Synostosis of... ORPHA:988
Microcephaly-Micromelia Syndrome
Short tibia, Absent thumb, Humeroradial synostosis, Micrognathia, Missing ribs, Absent radius, Ol... OMIM:251230
Robin Sequence With Cleft Mandible And Limb Anomalies
Short tibia, Short phalanx of finger, Hip subluxation, Mesomelic leg shortening, Short 5th finger... OMIM:268305
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Anemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia... OMIM:619041
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Hand monodactyly, Absent tibia, Bifid femur, Aplasia of the ulna, Split hand, Foot monodactyly OMIM:228250
Acromesomelic Dysplasia 3
Aplasia of the proximal phalanx of the 2nd finger, Broad foot, Short phalanx of finger, Limb unde... OMIM:609441
Diamond-Blackfan Anemia 3
Reticulocytopenia, Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Neutropenia, Lethal Congenital, With Eosinophilia
Neutropenia, Eosinophilia OMIM:257100
Mesomelic Dysplasia, Savarirayan Type
Metatarsus valgus, Broad tibial metaphyses, Flared radial metaphysis, Hip dislocation, Narrow ili... ORPHA:85170
Orofaciodigital Syndrome Ix
Short tibia, Hand polydactyly, Camptodactyly, Toe syndactyly OMIM:258865
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia ORPHA:2582
Beta-Thalassemia
Anemia, Cholelithiasis, Hypogonadotropic hypogonadism, Thrombocytopenia, Abnormal hemoglobin, Spl... ORPHA:848
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Anemia, Metaphyseal sclerosis, Coxa vara, Narrow greater sciatic notch, P... OMIM:260400
Diamond-Blackfan Anemia 11
Anemia, Absent thumb, Neutropenia, Hypoplasia of the radius, Radioulnar synostosis, Hypoplasia of... OMIM:614900
Multiple Epiphyseal Dysplasia, Lowry Type
Knee flexion contracture, Genu valgum, Rhizomelia, Micrognathia, Fragmented epiphyses, Epiphyseal... ORPHA:166016
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Short toe, Micrognathia, HbH hemoglobin, Hypospadias, Cryptorchidism, Microcytic anemia, Talipes ... ORPHA:98791
Immunodeficiency 76
Lymphopenia, Splenomegaly, T lymphocytopenia, B lymphocytopenia OMIM:619164
Immunodeficiency 95
Lymphopenia OMIM:619773
Hemochromatosis, Type 3
Hypogonadotropic hypogonadism, Anemia, Neutropenia, Lymphopenia OMIM:604250
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Megaloblastic anemia, Lymphopenia, Pancytopenia, Thrombocytosis, Macrocytic anemia, Hypersegmenta... OMIM:617780
Congenital Disorder Of Glycosylation, Type Iic
Reduction of neutrophil motility, Neutrophilia, Short foot, Brachydactyly OMIM:266265
Atelosteogenesis Type Iii
Short tibia, Patellar dislocation, Vertebral hypoplasia, Short tubular bones of the hand, Microgn... ORPHA:56305
Adult Idiopathic Neutropenia
Monocytopenia, Lymphopenia, Abnormal neutrophil count, Monocytosis, Neutropenia ORPHA:2688
Immunodeficiency 13
Decreased CD4:CD8 ratio, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Decreased proportion ... OMIM:615518
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Disproportionate shortening of the tibia, Preaxial hand polydactyly, Ambiguous genitalia, Short r... OMIM:263520
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Short tibia, Absent gallbladder, Hypoplastic pubic bone, Short ribs, Short long bone, Micrognathi... OMIM:617925
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Genital ulcers, Thrombocytopenia, Hemolytic anemia, Lymphopenia OMIM:616744
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Omodysplasia 1
Short tibia, Limited knee flexion/extension, Anterolateral radial head dislocation, Rhizomelia, M... OMIM:258315
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Opisthotonus, Polycythemia OMIM:250800
Acromelic Frontonasal Dysostosis
Short tibia, Polydactyly, Patellar hypoplasia, Preaxial foot polydactyly, Hypopituitarism, Syndac... OMIM:603671
Omodysplasia 2
Rhizomelic arm shortening, Broad femoral neck, Uterus didelphys, Short 1st metacarpal, Micrognath... OMIM:164745
Immunodeficiency 14B, Autosomal Recessive
B lymphocytopenia, Neutrophilia, Thrombocytosis, Leukocytosis, Monocytosis OMIM:619281
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Impaired neutrophil chemotaxis, Neutrophilia, Abnormally low T cell receptor excision circle leve... OMIM:608203
Immunodeficiency 97 With Autoinflammation
Reduced natural killer cell count, Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T ... OMIM:619802
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Short tibia, Coxa valga, Micrognathia, Epiphyseal stippling, Camptodactyly, Hepatosplenomegaly, M... ORPHA:96334
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Synostosis of carpal bones, Ulnar deviation of finger, Hypoplasia of the ulna, Abnormal morpholog... ORPHA:2634
Noonan Syndrome 12
11 pairs of ribs, Decreased response to growth hormone stimulation test, Lymphopenia, Proximal pl... OMIM:618624
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response, Dysplastic testes, Ambiguous genitalia, male, Cryptorchidism, Testi... OMIM:608800
Hereditary Methemoglobinemia
Methemoglobinemia, Limb dystonia, Athetosis ORPHA:621
Beta-Thalassemia
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio OMIM:613985
Alpha-Thalassemia
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
Immunodeficiency 32B
Anemia, Monocytopenia, Neutrophilia, Eosinophilia, Impaired oxidative burst, Thrombocytopenia, Sp... OMIM:226990
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
T lymphocytopenia, Lymphocytosis, Decreased proportion of CD3-positive T cells, Decreased proport... ORPHA:169154
Microphthalmia With Limb Anomalies
Foot oligodactyly, Capitate-hamate fusion, 2-5 toe syndactyly, Toe syndactyly, Hip dislocation, M... OMIM:206920
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of class-switched memory B cells, Lymphopenia, Decreased proportion of CD4+C... OMIM:619846
Diamond-Blackfan Anemia 4
Erythroid hypoplasia, Neutropenia, Macrocytic anemia, Reticulocytopenia OMIM:612527
Acheiropodia
Aplasia of the ulna, Upper limb phocomelia, Absent radius, Abnormal metaphysis morphology, Abnorm... ORPHA:931
Diamond-Blackfan Anemia 6
Triphalangeal thumb, Micrognathia, Persistence of hemoglobin F, Macrocytic anemia, Increased mean... OMIM:612561
Orofaciodigital Syndrome Type 2
Short tibia, Broad first metatarsal, Mesomelic leg shortening, Finger syndactyly, Micrognathia, P... ORPHA:2751
Beta-Thalassemia Intermedia
Cholelithiasis, Proximal tubulopathy, Hypogonadism, Increased HbA2 hemoglobin, Erythroid hyperpla... ORPHA:231222
Mirage Syndrome
Leukopenia, Anemia, Radial club hand, Microphallus, Shawl scrotum, Decreased testicular size, Tal... OMIM:617053
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Patellar hypoplasia, Preaxial foot polydactyly, Absent tibia, Mirror image foot polydactyly, Bila... OMIM:119800
Faciocardiomelic Dysplasia, Lethal
Short 5th finger, Hypoplasia of the radius, Micrognathia, Hypoplasia of the ulna, Talipes, Short ... OMIM:227270
Thrombocytopenia-Absent Radius Syndrome
Short phalanx of finger, Absent thumb, Coxa valga, Patellar dislocation, Micrognathia, Hip disloc... OMIM:274000
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Leukopenia, T lymphocytopenia, Monocytopenia, B lymphocytopenia, Impaired neutrophil chemotaxis, ... OMIM:618986
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Elliptocytosis, Poikilocytosis, Anisocytosis, Macrocytic anemia, Thrombocytopenia, Neutropenia, A... OMIM:300835
Systemic Lupus Erythematosus 17
Leukopenia, Thrombocytopenia, Lymphopenia, Autoimmune thrombocytopenia OMIM:301080
Fanconi Anemia, Complementation Group E
Anemia, Absent thumb, Complete duplication of thumb phalanx, Reticulocytopenia, Short thumb, Panc... OMIM:600901
Cartilage-Hair Hypoplasia
Metaphyseal dysplasia, Anemia, Metaphyseal cupping, Coxa vara, Hypoplasia of the odontoid process... OMIM:250250
Schimke Immunoosseous Dysplasia
Anemia, Abnormal T cell morphology, Elevated circulating thyroid-stimulating hormone concentratio... OMIM:242900
Hb Bart'S Hydrops Fetalis
Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:163596
Saul-Wilson Syndrome
Coxa valga, Short metacarpal, Enlarged epiphyses, Micrognathia, Hypoplasia of the odontoid proces... OMIM:618150
Seckel Syndrome 1
11 pairs of ribs, Clitoral hypertrophy, Micrognathia, Ivory epiphyses, Hip dislocation, Abnormal ... OMIM:210600
Ataxia-Telangiectasia
Polycystic ovaries, Tremor, Lymphopenia, Abnormal testis morphology ORPHA:100
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Shoulder dislocation, Genu varum, Aplasia/Hypoplasia of the thumb, Asymmetric radial dysplasia, R... OMIM:171480
Primary Familial Polycythemia
Abnormal hemoglobin, Polycythemia ORPHA:90042
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Anemia, Brain abscess, Abnormal testis morphology, Liver abscess, Neutrophilia ORPHA:54251
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split foot, Brachydactyly, Fibular apl... OMIM:113310
Craniosynostosis With Fibular Aplasia
Fibular aplasia, Cryptorchidism OMIM:218550
Immunodeficiency 44
Lymphopenia OMIM:616636
Nephrotic Syndrome, Type 14
Hypogonadism, Nephrotic syndrome, Stage 5 chronic kidney disease, Lymphopenia, Diffuse mesangial ... OMIM:617575
Immunodeficiency 49
T lymphocytopenia, Micrognathia, Decreased proportion of naive CD4 T cells, Lymphopenia, Abnormal... OMIM:617237
Blackfan-Diamond Anemia
Triphalangeal thumb, Acute myeloid leukemia, Leukopenia, Absent thumb, Reticulocytopenia, Short t... ORPHA:124
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lymphopenia, T lymphocytopenia, B lymphocytopenia ORPHA:277
Atelosteogenesis, Type I
Vertebral hypoplasia, Micrognathia, Distal tapering femur, Short femur, Limb undergrowth, Knee di... OMIM:108720
Dominant Beta-Thalassemia
Genu valgum, Hypersplenism, Reduced hemoglobin A, Decreased mean corpuscular hemoglobin concentra... ORPHA:231226
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Acute lymphoblastic leukemia, Lymphopenia, Eosinophilia, Monocytosis, Apl... ORPHA:486
Acrorenal-Mandibular Syndrome
Unicornuate uterus, Uterus didelphys, Bicornuate uterus, Toe syndactyly, Micrognathia, Polycystic... OMIM:200980
Acro-Renal-Mandibular Syndrome
Finger syndactyly, Uterus didelphys, Bicornuate uterus, Hypoplasia of the radius, Micrognathia, H... ORPHA:958
Beta-Thalassemia Major
Genu valgum, Hypersplenism, Reduced hemoglobin A, Anisopoikilocytosis, Decreased mean corpuscular... ORPHA:231214
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Tapered finger, Coxa valga, Reduced alpha/beta synthesis ratio, Shawl scrotum, Clinodactyly, Hypo... OMIM:301040
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Anemia, Ambiguous genitalia, Abnormality of the male genitalia, Hypoplasia of penis, Clinodactyly... ORPHA:847
Lymphangiectasia, Intestinal
Pedal edema, Lymphopenia OMIM:152800
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Rhizomelic arm shortening, Leukopenia, Anemia, Reticulocytopenia, B lymphocytopenia, Short metaca... ORPHA:508542
Hydrolethalus Syndrome 1
Preaxial hand polydactyly, Upper limb undergrowth, Micrognathia, Proximal tibial hypoplasia, Dupl... OMIM:236680
Acrofacial Dysostosis, Rodríguez Type
Finger syndactyly, Radioulnar synostosis, Microretrognathia, Abnormal pelvic girdle bone morpholo... ORPHA:1788
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Metaphyseal dysplasia, Coxa valga, Delayed ossification of carpal bones, Lymphopenia, Dislocated ... OMIM:617425
Phocomelia, Schinzel Type
Foot oligodactyly, Humeroradial synostosis, Hypoplasia of the radius, Micrognathia, Radial bowing... ORPHA:2879
Immunodeficiency 91 And Hyperinflammation
Hemolytic-uremic syndrome, Nephrotic syndrome, Neutrophilia, Membranoproliferative glomerulonephr... OMIM:619644
Pgm3-Cdg
Leukopenia, Reduced natural killer cell count, T lymphocytopenia, Hemolytic anemia, Abnormal prop... ORPHA:443811
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Ophthalmomandibulomelic Dysplasia
Coxa valga, Radial bowing, Lateral humeral condyle aplasia, Mesomelia, Fibular hypoplasia OMIM:164900
Immunodeficiency 85 And Autoimmunity
Reduced natural killer cell count, T lymphocytopenia, Lymphopenia, Decreased proportion of memory... OMIM:619510
Sneddon Syndrome
Tremor, Lymphopenia OMIM:182410
Deafness-Lymphedema-Leukemia Syndrome
Abnormal neutrophil count, Leukocytosis, Myeloproliferative disorder, Thrombocytopenia, Acute leu... ORPHA:3226
Schimke Immuno-Osseous Dysplasia
Nephrotic range proteinuria, Anemia, Neutropenia, Stage 5 chronic kidney disease, Abnormal femora... ORPHA:1830
Relapsing Fever
Leukopenia, Anemia, Acute kidney injury, Neutrophilia, Hematuria, Leukocytosis, Thrombocytopenia ORPHA:91547
Tibial Hemimelia
Absent tibia OMIM:275220
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Short phalanx of finger, T lymphocytopenia, Micrognathia, Limb undergrowth, Aplasia/hypoplasia in... ORPHA:508533
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal natural killer cell count, Abnormal B cell count, Hepatosplenomegaly, Lymphopenia, Autoi... ORPHA:331206
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Short phalanx of finger, Early ossification of capital femoral epiphyses, Hypoplastic iliac wing,... OMIM:208500
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Reduced natural killer cell count, Cutaneous abscess, Lymphopenia, Neutropenia, Talipes equinovarus OMIM:619752
Immunodeficiency 36 With Lymphoproliferation
Chronic lymphatic leukemia, Increased proportion of transitional B cells, B lymphocytopenia, Decr... OMIM:616005
Eiken Syndrome
Broad femoral neck, Pseudoepiphyses, Long hallux, Narrow pelvis bone, Flat acetabular roof, Clino... OMIM:600002
Campomelic Dysplasia
11 pairs of ribs, Ambiguous genitalia, Short long bone, Micrognathia, Hypoplastic inferior ilia, ... ORPHA:140
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Leukopenia, Anemia, Hypoplasia of the thymus, Perianal abscess, Clinodactyly, Erythroid hypoplasi... OMIM:612541
Osteofibrous Dysplasia, Susceptibility To
Pseudoarthrosis, Fibular hypoplasia OMIM:607278
Systemic Mastocytosis With Associated Hematologic Neoplasm
Acute myeloid leukemia, Myeloid leukemia, Increased basophil count, Chronic lymphatic leukemia, C... ORPHA:98849
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Clinodactyly of the 5th finger, Lymphopenia ORPHA:1116
Gm1 Gangliosidosis Type 1
Broad long bone diaphyses, Exaggerated startle response, Short long bone, Flattened femoral head,... ORPHA:79255
Acromelic Frontonasal Dysplasia
Aplasia/Hypoplasia of the tibia, Anterior pituitary hypoplasia, Patellar hypoplasia, Preaxial foo... ORPHA:1827
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
B lymphocytopenia, Growth arrest lines, Lymphopenia, Autoimmune thrombocytopenia, Abnormal pelvic... OMIM:102700
Stiff-Person Syndrome
Anemia, Exaggerated startle response, Opisthotonus OMIM:184850
Occipital Horn Syndrome
Genu valgum, Humerus varus, Coxa valga, Avascular necrosis of the capital femoral epiphysis, Apla... ORPHA:198
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Perianal abscess, Nephrotic syndrome, Granuloma, Lymphopenia, Hepatosplenomegal... OMIM:618935
Icf Syndrome
Micrognathia, Anemia, Lymphopenia, Abnormality of neutrophils ORPHA:2268
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Purine Nucleoside Phosphorylase Deficiency
Neutropenia in presence of anti-neutropil antibodies, Pure red cell aplasia, Lymphopenia, Autoimm... OMIM:613179
Purine Nucleoside Phosphorylase Deficiency
Abnormal T cell morphology, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia... ORPHA:760
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Humeroradial synostosis, Aplasia/hypoplasia of the femur, Hip dislocation, Phocomelia, Aplasia/Hy... OMIM:276820
Thymoma
Leukemia, Glomerulonephritis, Imbalanced hemoglobin synthesis, Prostate neoplasm, Aplastic anemia... ORPHA:99867
Fibrochondrogenesis 1
Dumbbell-shaped long bone, Short foot, Rhizomelia, Short ribs, Short long bone, Small hand, Narro... OMIM:228520
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Genital ulcers, B lymphocytopenia, Lymphopenia, Abnormally low T cell receptor excision circle le... OMIM:602450
Short Stature, Microcephaly, And Endocrine Dysfunction
Anemia, Clinodactyly, Unilateral renal agenesis, Lymphopenia, Ectopic kidney, Pes cavus, Limb und... OMIM:616541
T-Cell Immunodeficiency With Thymic Aplasia
T lymphocytopenia, Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplen... OMIM:242700
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 6
Abnormally low T cell receptor excision circle level, Pancytopenia, Lymphopenia OMIM:619767
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased proportion of CD3-positive T cells, Lymphopenia, Eosinophilia, Hepatosplenomegaly ORPHA:169160
Cowden Syndrome 1
Micrognathia, Palmoplantar hyperkeratosis, Lymphopenia, Hydrocele testis, Varicocele, Ovarian car... OMIM:158350
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Pes cavus, Absent Achilles reflex, Ankle clonus, Exaggerated startle response OMIM:609541
Trichothiodystrophy 3, Photosensitive
Bilateral cryptorchidism, Neutropenia, Lymphopenia OMIM:616395
Lead Poisoning
Tubulointerstitial nephritis, Anemia, Abnormal T cell morphology, Oligospermia, Imbalanced hemogl... ORPHA:330015
Cyclic Neutropenia
Perianal abscess, Decreased eosinophil count, Lymphopenia, Cyclic neutropenia, Thrombocytopenia, ... ORPHA:2686
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Micrognathia, Persistence of hemoglobin F OMIM:617101
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia OMIM:207731
Aromatic L-Amino Acid Decarboxylase Deficiency
Exaggerated startle response, Blepharospasm, Limb dystonia, Torticollis, Choreoathetosis, Oculogy... OMIM:608643
Schneckenbecken Dysplasia
Dumbbell-shaped long bone, Hypoplastic ilia, Short ribs, Diaphyseal thickening, Increased fibular... ORPHA:3144
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Reduced natural killer cell count, Decreased proportion of CD4-positive helper T cells, Lymphopen... ORPHA:276
Spastic Tetraplegia And Axial Hypotonia, Progressive
Overlapping toe, Exaggerated startle response, Ankle clonus OMIM:618598
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Abnormal metaphysis morphology, Anemia, Long fibula, Lymphopenia ORPHA:935
Spondyloenchondrodysplasia With Immune Dysregulation
Metaphyseal dysplasia, Metaphyseal irregularity, Metaphyseal sclerosis, T lymphocytopenia, Short ... OMIM:607944
Macrocephaly/Autism Syndrome
Hydrocele testis, Splenomegaly, Lymphopenia, Penile freckling OMIM:605309
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Knee flexion contracture, Micrognathia, Lymphopenia, Head titubation, Overlapping fingers, Bilate... OMIM:619708
Charge Syndrome
Gonadotropin deficiency, Micrognathia, Parathyroid hypoplasia, Hypoparathyroidism, Bilateral tali... OMIM:214800
Ataxia-Telangiectasia
Female hypogonadism, Abnormal spermatogenesis, Hypoplasia of the thymus, T lymphocytopenia, Chore... OMIM:208900
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Campomelic Dysplasia
Short phalanx of finger, Hallux valgus, Micrognathia, Hip dislocation, Metatarsus adductus, Dislo... OMIM:114290
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Pes cavus, Exaggerated startle response, Hyporeflexia of lower limbs ORPHA:320406
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response, Hip contracture, Hip dislocation, Overlapping toe, Talipes equinova... OMIM:617301
Plaa-Associated Neurodevelopmental Disorder
Exaggerated startle response, Hyperextensibility of the finger joints, Micrognathia, Edema of the... ORPHA:521426
Immunodeficiency 23
Hemolytic anemia, Membranoproliferative glomerulonephritis, Lymphopenia, Eosinophilia, Neutropeni... OMIM:615816
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Tay-Sachs Disease
Exaggerated startle response, Ankle clonus, Precocious puberty, Quadriceps muscle atrophy, Hepato... ORPHA:845
Khan-Khan-Katsanis Syndrome
Vesicoureteral reflux, Anemia, Micrognathia, Clinodactyly, Lymphopenia, Renal cyst, Renal hypopla... OMIM:618460
Sandhoff Disease, Infantile Form
Exaggerated startle response, Hepatosplenomegaly ORPHA:309155
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Exaggerated startle response, Tremor, Clinodactyly of the 5th finger OMIM:618056
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune hemolytic anemia, Splenomegaly, Lymphopenia, Autoimmune thrombocytopenia OMIM:616100
Hyperekplexia 1
Exaggerated startle response, Hip dislocation OMIM:149400
Autoimmune Lymphoproliferative Syndrome
Increased B cell count, Abnormal proportion of CD8-positive T cells, Coombs-positive hemolytic an... ORPHA:3261
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hypoplasia of the thymus, Lymphopenia, Impaired lymphocyte transformation with phytohemagglutinin... OMIM:243150
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Hepatosplenomegaly, Impaired lymphocyte transf... ORPHA:35078
Proteasome-Associated Autoinflammatory Syndrome 3
Finger swelling, Anemia, Lymphopenia, Thrombocytopenia, Splenomegaly OMIM:617591
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Tapered finger, Short 5th finger, Urethral stricture, Imperforate hymen, Grade III vesicoureteral... OMIM:619522
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
11 pairs of ribs, Anemia, Tapered finger, Small hand, Micrognathia, Hip dysplasia, Lymphopenia, S... OMIM:620005
Orofaciodigital Syndrome Type 4
Camptodactyly of finger, Genu varum, Aplasia/Hypoplasia of the tibia, Preaxial hand polydactyly, ... ORPHA:2753
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Psoriasis 14, Pustular
Neutrophilia, Leukocytosis OMIM:614204
Otopalatodigital Syndrome, Type Ii
Toe syndactyly, Micrognathia, Broad hallux, Short hallux, Postaxial hand polydactyly, Rocker bott... OMIM:304120
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, T lympho... OMIM:600802
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Dystonia ORPHA:309246
Dyskeratosis Congenita, Autosomal Dominant 1
Leukopenia, Anemia, Lymphopenia, Increased mean corpuscular volume, Thrombocytopenia, Aplastic an... OMIM:127550
Immunodeficiency 55
Neutropenia, Absent natural killer cells, Lymphopenia OMIM:617827
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Increased proportion of CD4-positive T cells, Leukocytosis OMIM:617099
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Primary Intestinal Lymphangiectasia
Anemia, Reduced proportion of CD4+ effector memory T cells, Lymphopenia, Decreased proportion of ... ORPHA:90362
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Asparagine Synthetase Deficiency
Micrognathia, Exaggerated startle response, Long foot OMIM:615574
Sandhoff Disease
Urinary incontinence, Exaggerated startle response, Hepatosplenomegaly OMIM:268800
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
HbH hemoglobin ORPHA:423479
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F OMIM:619769
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Micrognathia, Palmoplantar hyperhidrosis, Rocker bottom foot, Long ... OMIM:617527
Ulbright-Hodes Syndrome
Short sternum, Humeroradial synostosis, Short ribs, Short metacarpal, Micrognathia, Polycystic ki... ORPHA:3404
Wiskott-Aldrich Syndrome
Anemia, Hypoplasia of the thymus, Hemolytic anemia, Abnormal eosinophil morphology, Lymphopenia, ... ORPHA:906
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Sweet Syndrome
Acute myeloid leukemia, Anemia, Sterile abscess, Chronic lymphatic leukemia, Neutrophilia, Leukoc... ORPHA:3243
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Lymph... ORPHA:391487
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response OMIM:620114
Wiskott-Aldrich Syndrome
Absent microvilli on the surface of peripheral blood lymphocytes, Decreased proportion of CD8-pos... OMIM:301000
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Dystonia OMIM:272750
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Familial Mediterranean Fever
Nephrotic syndrome, Stage 5 chronic kidney disease, Neutrophilia, Leukocytosis, Orchitis, Splenom... OMIM:249100
Leukodystrophy, Hypomyelinating, 13
Exaggerated startle response OMIM:616881
Pneumocystosis
Abnormal neutrophil count ORPHA:723
Cranioectodermal Dysplasia 1
Tubulointerstitial nephritis, Short toe, Rhizomelia, Stage 1 chronic kidney disease, Stage 5 chro... OMIM:218330
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Exaggerated startle response, Dystonia ORPHA:438216
Whim Syndrome
Abnormality of neutrophil morphology, Lymphopenia, Parotitis, Neutropenia, Cervix cancer ORPHA:51636
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Exaggerated startle response OMIM:617864
Kinsship Syndrome
Polydactyly, Coxa valga, Micrognathia, Hip dislocation, Dislocated radial head, Horseshoe kidney,... OMIM:619297
Hyper-Igd Syndrome
Elevated urine mevalonic acid level, Renal angiomyolipoma, Neutrophilia, Hepatosplenomegaly, Leuk... OMIM:260920
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Abnormality of the anterior pituitary, Vesicoureteral reflux, Anemia, Exaggerated startle respons... ORPHA:438213
Osteopathia Striata With Cranial Sclerosis
Paranasal sinus hypoplasia, Multicystic kidney dysplasia, Flexion contracture of toe, Micrognathi... OMIM:300373
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response, Calf muscle hypertrophy OMIM:253800
Common Variable Immunodeficiency
Hemolytic anemia, Splenomegaly, Lymphopenia, Autoimmune thrombocytopenia ORPHA:1572

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.

Phenotype Allele Zygosity Sex Life Stage
Testis - MPATH pathological process term dysplasia Atp6v0d1tm1b(EUCOMM)Hmgu HET Early adult
Testis - MPATH pathological process term spermatogenesis defect Atp6v0d1tm1b(EUCOMM)Hmgu HET Early adult

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 Atp6v0d1.

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

Title Journal IMPC Allele PubMed ID
Proteotyping of knockout mouse strains reveals sex- and strain-specific signatures in blood plasma. NPJ systems biology and applications (May 2021) Atp6v0d1tm1b(EUCOMM)Hmgu PMC8163790

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
Atp6v0d1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Atp6v0d1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Atp6v0d1tm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice, Tissue
Atp6v0d1tm1a(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