Gene Summary

Name:
vacuolar protein sorting 13A
Synonyms:
4930516E05Rik,  D330038K10Rik,  4930543C13Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased T-helper cell number Vps13atm1b(EUCOMM)Wtsi HOM   Early adult 0.00
male infertility Vps13atm1b(EUCOMM)Wtsi HOM Early adult 0.00
decreased plasmacytoid dendritic cell number Vps13atm1b(EUCOMM)Wtsi HOM   Early adult 0.00

Download data as:  TSV  XLS

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lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Blood vessel N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle tissue N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

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

Anatomy Background staining in controls (WT)
adrenal gland 0.62% (3 of 482)
aorta 0.21% (1 of 468)
blood vessel 0.0%
bone 0.0%
brain 0.66% (3 of 455)
brainstem 0.45% (2 of 440)
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.63% (3 of 477)
cerebral cortex 0.22% (1 of 448)
eye 0.0%
gall bladder 0.0%
heart 0.44% (2 of 454)
hippocampus 0.22% (1 of 452)
hypothalamus 0.42% (2 of 478)
kidney 2.97% (13 of 438)
large intestine 1.94% (9 of 464)
liver 0.0%
lower urinary tract 0.22% (1 of 457)
lung 0.0%
lymph node 0.22% (1 of 455)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.22% (1 of 448)
ovary 0.0%
oviduct 0.0%
pancreas 0.86% (4 of 464)
parathyroid gland 0.24% (1 of 425)
peripheral nervous system 0.22% (1 of 461)
peyer's patch 0.7% (1 of 142)
pituitary gland 0.22% (1 of 464)
prostate gland 1.75% (8 of 457)
skeletal muscle tissue 0.0%
skin 0.0%
small intestine 1.75% (8 of 458)
spinal cord 0.45% (2 of 442)
spleen 0.65% (3 of 459)
stomach 2.2% (10 of 454)
striatum 0.44% (2 of 452)
testis 1.11% (5 of 452)
thymus 0.22% (1 of 458)
thyroid gland 2.59% (12 of 464)
trachea 0.65% (3 of 465)
uterus 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Anti-nuclear antibody assay

Images

6 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

X-ray

XRay Images Skull Lateral Orientation

14 Images

X-ray

XRay Images Forepaw

14 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

Spleen Immunophenotyping

Images associated with FACS analysis

6 Images

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

Mesenteric Lymph Node Immunophenotyping

Images associated with FACS analysis

15 Images

DSS Histology

Images

8 Images

Eye Morphology

Images Slit Lamp

1 Images

Eye Morphology

Images Ophthalmoscopy

1 Images

Ear epidermis immunophenotyping

Images

12 Images

Legacy Phenotype Associated Images

View all 70 images

Human diseases caused by Vps13a 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.

The table below shows human diseases associated to Vps13a by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Vps13a by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Spermatogenic Failure 43
Absent sperm flagella, Absent sperm axoneme central pair complex, Male infertility, Coiled sperm ... OMIM:618751
Spermatogenic Failure 45
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella, Reduced spe... OMIM:619094
Spermatogenic Failure 49
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 46
Irregularly shaped sperm tail, Absent sperm flagella, Male infertility, Short sperm flagella, Coi... OMIM:619095
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Spermatogenic Failure 58
Irregularly shaped sperm tail, Oligospermia, Male infertility, Short sperm flagella, Immotile spe... OMIM:619585
Spermatogenic Failure 5
Male infertility, Functional abnormality of male internal genitalia OMIM:243060
Spermatogenic Failure 56
Irregularly shaped sperm tail, Absent sperm flagella, Reduced sperm motility, Oligospermia, Male ... OMIM:619515
Spermatogenic Failure 65
Irregularly shaped sperm tail, Absent sperm flagella, Reduced sperm motility, Abnormal sperm mid-... OMIM:619712
Spermatogenic Failure 11
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility OMIM:615081
Spermatogenic Failure 47
Absent sperm flagella, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm OMIM:619102
Spermatogenic Failure 40
Absent sperm flagella, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm, Coil... OMIM:618664
Spermatogenic Failure, X-Linked, 3
Irregularly shaped sperm tail, Absent sperm flagella, Oligospermia, Male infertility, Short sperm... OMIM:301059
Spermatogenic Failure 7
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility OMIM:612997
Spermatogenic Failure 42
Microcephalic sperm head, Absent sperm flagella, Tapered sperm head, Male infertility, Short sper... OMIM:618745
Spermatogenic Failure 41
Tapered sperm head, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm OMIM:618670
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligospermia, Male infertility, Reduc... ORPHA:529970
Spermatogenic Failure 39
Absent sperm flagella, Tapered sperm head, Oligospermia, Male infertility, Short sperm flagella, ... OMIM:618643
Spermatogenic Failure 16
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 21
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 54
Tapered sperm head, Oligospermia, Male infertility, Abnormal sperm axoneme morphology, Cryptozoos... OMIM:619379
Spermatogenic Failure 64
Oligospermia, Abnormal sperm head morphology, Male infertility, Reduced progressive sperm motility OMIM:619696
Spermatogenic Failure 63
Oligospermia, Decreased testicular size, Male infertility, Reduced progressive sperm motility OMIM:619689
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Spermatogenic Failure 24
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Coiled sperm flagella, Reduce... OMIM:617959
Spermatogenic Failure 51
Microcephalic sperm head, Irregularly shaped sperm tail, Macrocephalic sperm head, Absent sperm f... OMIM:619177
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Spermatogenic Failure 18
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:617576
Spermatogenic Failure 20
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:617593
Spermatogenic Failure 19
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:617592
Spermatogenic Failure 35
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:618341
Spermatogenic Failure 33
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:618152
Spermatogenic Failure 34
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:618153
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 10
Abnormal sperm morphology, Infertility OMIM:614822
Spermatogenic Failure 62
Non-obstructive azoospermia, Early spermatogenesis maturation arrest, Male infertility OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Early spermatogenesis maturation arrest, Male infertility OMIM:619672
Spermatogenic Failure 59
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619646
Spermatogenic Failure 1
Oligospermia, Cryptozoospermia, Male infertility OMIM:258150
Spermatogenic Failure 48
Azoospermia, Oligospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619108
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure 38
Absent sperm flagella, Tapered sperm head, Abnormal axonemal organization of respiratory motile c... OMIM:618433
Spermatogenic Failure 57
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility, Decreased testi... OMIM:619528
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
Spermatogenic Failure 50
Azoospermia, Spermatogenesis maturation arrest, Male infertility, Decreased testicular size OMIM:619145
Partial Chromosome Y Deletion
Cryptorchidism, Abnormal spermatogenesis, Non-obstructive azoospermia, Oligospermia, Male inferti... ORPHA:1646
Spermatogenic Failure 3
Infertility OMIM:606766
Spermatogenic Failure 17
Infertility OMIM:617214
Oocyte Maturation Defect 3
Infertility OMIM:617712
Spermatogenic Failure 27
Infertility OMIM:617965
Oocyte Maturation Defect 4
Infertility OMIM:617743
Oocyte Maturation Defect 5
Infertility OMIM:617996
Spermatogenic Failure 6
Decreased acrosin in sperm head, Male infertility, Globozoospermia OMIM:102530
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Isochromosomy Yp
Azoospermia, Ambiguous genitalia, Male infertility, Decreased testicular size ORPHA:98797
Spermatogenic Failure 12
Azoospermia, Infertility, Abnormal male germ cell morphology OMIM:615413
Spermatogenic Failure 32
Azoospermia, Infertility OMIM:618115
Spermatogenic Failure 23
Azoospermia, Infertility OMIM:617707
Spermatogenic Failure 22
Azoospermia, Infertility OMIM:617706
Immunodeficiency 40
Lymphopenia OMIM:616433
Isochromosomy Yq
Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicocele, Azoospermia, ... ORPHA:98798
Spermatogenic Failure, X-Linked, 2
Azoospermia, Male infertility, Testicular atrophy OMIM:309120
Hypobetalipoproteinemia, Familial, 1
Ataxia, Acanthocytosis OMIM:615558
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Decreased mean corpuscular hemoglobin concentration, Sickled ... ORPHA:90039
Persistent Mullerian Duct Syndrome, Types I And Ii
Bilateral cryptorchidism, Abnormality of male internal genitalia, Male infertility OMIM:261550
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm tail morphology, Abnormal sperm morphology, Non-obstructive azoospermia, Abnormal ... ORPHA:399808
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular hemoglobin concentration, Splenomegaly, Acanthocytosis, Hemolytic anem... OMIM:616689
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility, Spermatocele OMIM:301060
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm OMIM:618449
Developmental And Epileptic Encephalopathy 50
Schistocytosis, Acanthocytosis, Anemia, Anisopoikilocytosis, Broad-based gait OMIM:616457
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Somatic sensory dysfunction, Shuffling gait, Bradykinesia, Corpus callosum atrophy, Gait disturba... OMIM:221820
Spermatogenic Failure 8
Azoospermia, Oligospermia, Cryptozoospermia OMIM:613957
Spinocerebellar Ataxia, Autosomal Recessive 27
Gait ataxia, Cerebral atrophy, Gliosis OMIM:618369
Abetalipoproteinemia
Ataxia, Acanthocytosis OMIM:200100
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Spermatogenic Failure 2
Azoospermia, Oligospermia OMIM:108420
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration
Pallidal degeneration, Eye of the tiger anomaly of globus pallidus, Acanthocytosis OMIM:607236
Spermatogenic Failure 30
Azoospermia, Cryptozoospermia OMIM:618110
Spinocerebellar Ataxia, Autosomal Recessive 2
Dysmetria, Ataxia, Unsteady gait, Gait ataxia, Gliosis, Limb ataxia OMIM:213200
Huntington Disease
Gait ataxia, Bradykinesia, Gliosis, Chorea OMIM:143100
Spermatogenic Failure 25
Azoospermia, Cryptozoospermia, Decreased testicular size OMIM:617960
Solute carrier family 4 (anion exchanger), member 1
Splenomegaly, Acanthocytosis, Spherocytosis, Hemolytic anemia, Elliptocytosis, Stomatocytosis, Re... OMIM:109270
Spinocerebellar Ataxia 17
Dysmetria, Bradykinesia, Ataxia, Gait ataxia, Diffuse cerebral atrophy, Chorea, Gliosis, Limb ata... OMIM:607136
Developmental And Epileptic Encephalopathy 14
Poor eye contact, Microcephaly, Cerebral cortical atrophy, Hypoplasia of the corpus callosum, Gli... OMIM:614959
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Anemia of inadequate production, Congenital thrombocytopenia, Poikilocytosis, Acanthocytosis OMIM:300367
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Absent vas deferens, Male infertility, Obstructive azoospermia ORPHA:48
Spherocytosis, Type 2
Splenomegaly, Acanthocytosis, Spherocytosis, Hemolytic anemia, Reticulocytosis OMIM:616649
Adenosine deaminase, elevated, hemolytic anemia due to
Stomatocytosis, Hemolytic anemia, Anisopoikilocytosis, Elevated red cell adenosine deaminase level OMIM:102730
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis OMIM:617441
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia OMIM:242870
Spermatogenic Failure 29
Azoospermia OMIM:618091
Spermatogenic Failure, Y-Linked, 2
Azoospermia OMIM:415000
Spermatogenic Failure 13
Azoospermia OMIM:615841
Spermatogenic Failure 14
Azoospermia OMIM:615842
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia OMIM:277180
Deleted in azoospermia
Azoospermia OMIM:400003
Imerslund-Gräsbeck Syndrome
Pancytopenia, Hypersegmentation of neutrophil nuclei, Megaloblastic anemia, Abnormal hemoglobin c... ORPHA:35858
Spinocerebellar Ataxia Type 32
Azoospermia, Male infertility, Testicular atrophy ORPHA:276183
Maternal Uniparental Disomy Of Chromosome 4
Spastic gait, Dysmetria, Impaired proprioception, Impaired vibratory sensation, Ataxia, Acanthocy... ORPHA:96180
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anemia of inadequate production, Oval macrocytosis, Anisocytosis, Poikilocytosis OMIM:603529
Choreoacanthocytosis
Caudate atrophy, Acanthocytosis, Progressive choreoathetosis OMIM:200150
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Splenomegaly, Anisocytosis, Reduced red cell pyruvate kinase level, Anemia, Chronic hemolytic ane... ORPHA:766
Leukoencephalopathy With Vanishing White Matter
Lethargy, Unsteady gait, Cessation of head growth, Gait disturbance, Gliosis, Leukoencephalopathy OMIM:603896
Anemia, Hypochromic Microcytic, With Iron Overload 2
Poikilocytosis, Splenomegaly, Anemia, Decreased mean corpuscular volume, Hypochromia OMIM:615234
Pantothenate Kinase-Associated Neurodegeneration
Iron accumulation in globus pallidus, Choreoathetosis, Eye of the tiger anomaly of globus pallidu... ORPHA:157850
Anemia, Congenital Dyserythropoietic, Type Ib
Splenomegaly, Anisocytosis, Anemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate ... OMIM:615631
Anemia, Congenital Dyserythropoietic, Type Ia
Poikilocytosis, Splenomegaly, Anisocytosis, Erythroid hyperplasia, Reticulocytosis, Anemia of ina... OMIM:224120
Combined Oxidative Phosphorylation Deficiency 14
Cerebral atrophy, Microcephaly, Anemia, Diffuse cerebral atrophy, Gliosis, Thrombocytopenia OMIM:614946
Ring Chromosome Y Syndrome
Abnormality of the female genitalia, Unilateral cryptorchidism, Perineal hypospadias, Abnormality... ORPHA:261529
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Macrocytic anemia, Increased hemoglobin, Impaired platelet aggr... OMIM:300835
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Macrothrombocytopenia, Anisocytosis, Anemia of inadequate production, Poikilo... ORPHA:67044
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Pyruvate Dehydrogenase E1-Alpha Deficiency
Cerebral atrophy, Basal ganglia gliosis, Basal ganglia cysts, Agenesis of corpus callosum, Inabil... ORPHA:79243
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Cerebral atrophy, Hypoplasia of the corpus callosum, Caudate atrophy, Basal ganglia calcification... OMIM:221770
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Hepatosplenomegaly, Anemia, Anisopoikilocytosis, Dysplastic erythropoesis, Reticulocytopenia, Dec... ORPHA:300298
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Familial Male-Limited Precocious Puberty
Long penis, Oligospermia, Precocious puberty, Macroorchidism, Male infertility ORPHA:3000
Sporadic Creutzfeldt-Jakob Disease
Cerebral atrophy, Cerebral cortex with spongiform changes, Astrocytosis, Hyperintensity of cerebr... ORPHA:204
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Decreased helper T cell proportion, T lymphocytopenia OMIM:601705
Abetalipoproteinemia
Dysmetria, Impaired proprioception, Impaired vibratory sensation, Ataxia, Steppage gait, Acanthoc... ORPHA:14
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Gliosis, Distal sensory impairment, Gait disturbance OMIM:604484
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Pancytopenia, Cerebral edema, Cerebral atrophy, Ataxia, Lethargy, Chorea, Gliosis, Abnormal cereb... OMIM:618321
Ciliary Dyskinesia, Primary, 34
Absent central microtubular pair morphology of respiratory motile cilia, Immotile sperm, Male inf... OMIM:617091
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618806
Huntington Disease-Like 1
Dysmetria, Abnormality of the basal ganglia, Bradykinesia, Gait ataxia, Cerebral cortical atrophy... ORPHA:157941
Beta-Thalassemia Major
Hepatosplenomegaly, Decreased mean corpuscular hemoglobin concentration, Hypopituitarism, Splenom... ORPHA:231214
Woronets Trait
Red blood cell keratocytosis OMIM:194320
Mcleod Syndrome
Impaired vibration sensation at ankles, Splenomegaly, Chorea, Acanthocytosis OMIM:300842
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Gliosis, Microcephaly OMIM:615119
Chylomicron Retention Disease
Impaired proprioception, Acanthocytosis ORPHA:71
Ichthyosis, Congenital, Autosomal Recessive 5
Acanthocytosis OMIM:604777
Hemimegalencephaly
Focal cortical dysplasia, Hyperintensity of cerebral white matter on MRI, Hemimegalencephaly, Pac... ORPHA:99802
Neurodegeneration With Brain Iron Accumulation 1
Choreoathetosis, Eye of the tiger anomaly of globus pallidus, Bradykinesia, Akinesia, Ataxia, Aca... OMIM:234200
Neurodegeneration With Brain Iron Accumulation 2A
Impaired social interactions, Cerebral atrophy, Ataxia, Unsteady gait, Gliosis OMIM:256600
Diabetes Insipidus, Neurohypophyseal
Gliosis, Central diabetes insipidus OMIM:125700
Arthrogryposis Multiplex Congenita 5
Normocytic anemia, Akinesia, Acanthocytosis, Microcephaly, Poikilocytosis OMIM:618947
Progressive Supranuclear Palsy
Abnormal synaptic transmission, Bradykinesia, Unsteady gait, Cerebral cortical atrophy, Gliosis, ... ORPHA:683
Ciliary Dyskinesia, Primary, 45
Absent inner and outer dynein arms, Male infertility OMIM:618801
Immunodeficiency 83, Susceptibility To Viral Infections
Gliosis, Lethargy OMIM:613002
Short Stature With Microcephaly And Distinctive Facies
Microcephaly, Anemia, Anisopoikilocytosis OMIM:615789
Pelizaeus-Merzbacher Disease, Connatal Form
Confluent hyperintensity of cerebral white matter on MRI, Inability to walk, Ataxia, Macrogyria, ... ORPHA:280210
Congenital Neuronal Ceroid Lipofuscinosis
Abnormal astrocyte morphology, Agenesis of corpus callosum, Microcephaly, Pachygyria, Gliosis, Ne... ORPHA:168486
Anemia, Congenital Dyserythropoietic, Type Iv
Schistocytosis, Reticulocytosis, Circulating nucleated red blood cells, Hepatosplenomegaly, Poiki... OMIM:613673
Spongiform Encephalopathy With Neuropsychiatric Features
Gliosis OMIM:606688
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Gliosis, Cerebral atrophy, Distal sensory impairment OMIM:604218
Iron-Refractory Iron Deficiency Anemia
Anisocytosis, Poikilocytosis, Hypochromic microcytic anemia OMIM:206200
Ciliary Dyskinesia, Primary, 18
Absent outer dynein arms, Immotile sperm, Male infertility OMIM:614874
Pontocerebellar Hypoplasia, Type 4
Gliosis, Microcephaly OMIM:225753
Lathosterolosis
Cerebral calcification, Microcephaly, Anisopoikilocytosis, Abnormal platelet morphology, Thromboc... ORPHA:46059
Hsd10 Disease
Choreoathetosis, Abnormal social behavior, Ataxia, Microcephaly, Gait disturbance, Frontotemporal... ORPHA:391417
Lathosterolosis
Cerebral atrophy, Schistocytosis, Hepatosplenomegaly, Acanthocytosis, Microcephaly, Anisopoikiloc... OMIM:607330
Ciliary Dyskinesia, Primary, 46
Reduced sperm motility OMIM:619436
Spastic Paraplegia 50, Autosomal Recessive
Gliosis, Microcephaly, Hypoplasia of the corpus callosum OMIM:612936
Ciliary Dyskinesia, Primary, 12
Abnormal central microtubular pair morphology of respiratory motile cilia, Immotile sperm OMIM:612650
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites
Heinz body anemia, Nonspherocytic hemolytic anemia, Poikilocytosis, Elliptocytosis OMIM:141700
Frontotemporal Dementia With Motor Neuron Disease
Progressive cerebellar ataxia, Gliosis, Neuronal loss in the cerebral cortex ORPHA:275872
Cernunnos-Xlf Deficiency
T lymphocytopenia, Thrombocytopenia, Anemia, B lymphocytopenia, Lymphopenia ORPHA:169079
Choreoacanthocytosis
Caudate atrophy, Abnormal putamen morphology, Impaired vibratory sensation, Abnormal hippocampus ... ORPHA:2388
Primary Non-Essential Cutis Verticis Gyrata
Gliosis, Microcephaly, Periventricular leukomalacia ORPHA:357225
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Gliosis, Athetosis OMIM:300857
Adducted Thumbs Syndrome
Microcephaly, Cerebral dysmyelination, Myelin-dependent gliosis OMIM:201550
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Gliosis, Diffuse leukoencephalopathy, Ataxia, Corpus callosum atrophy OMIM:169500
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Cerebral atrophy, Schistocytosis, Sideroblastic anemia, Splenomegaly, Ataxia, Decreased circulati... OMIM:616084
Leigh Syndrome
Gliosis, Focal substantia nigra T2 hyperintensity, Ataxia OMIM:256000
Intellectual Developmental Disorder, X-Linked 12
Gliosis, Microcephaly, Abnormal cerebral white matter morphology, Gait disturbance OMIM:300957
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Splenomegaly, Anisocytosis, Abnormal mean co... ORPHA:3203
Prolactin Deficiency, Isolated
Infertility, Irregular menstruation OMIM:264110
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Cerebrooculofacioskeletal Syndrome 1
Gliosis, Microcephaly, Agenesis of corpus callosum OMIM:214150
Pyropoikilocytosis, Hereditary
Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis OMIM:266140
Familial Acute Necrotizing Encephalopathy
Cerebral edema, Abnormal putamen morphology, Abnormality of thalamus morphology, Gait disturbance... ORPHA:88619
Parkinson Disease 1, Autosomal Dominant
Shuffling gait, Bradykinesia, Lewy bodies, Gait disturbance, Gliosis OMIM:168601
Autosomal Recessive Spastic Paraplegia Type 46
Abnormal sperm morphology, Infertility, Decreased testicular size, Abnormal sperm head morphology... ORPHA:320391
Dehydrated Hereditary Stomatocytosis
Schistocytosis, Reticulocytosis, Macrocytic anemia, Increased mean corpuscular hemoglobin concent... ORPHA:3202
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Gliosis, Microcephaly, Decreased response to growth hormone stimulation test, Gait disturbance ORPHA:457240
Ciliary Dyskinesia, Primary, 14
Abnormal axonemal organization of respiratory motile cilia, Male infertility, Immotile sperm, Abs... OMIM:613807
Isolated Follicle Stimulating Hormone Deficiency
Abnormal sperm morphology, Hypogonadotropic hypogonadism, Primary amenorrhea, Female hypogonadism... ORPHA:52901
Pontocerebellar Hypoplasia, Type 2A
Progressive microcephaly, Microcephaly, Cerebral cortical atrophy, Abnormal periventricular white... OMIM:277470
Hereditary Elliptocytosis
Stomatocytosis, Splenomegaly, Hemolytic anemia, Congenital hemolytic anemia, Abnormal erythrocyte... ORPHA:288
Hereditary Spherocytosis
Increased mean corpuscular hemoglobin concentration, Ataxia, Splenomegaly, Spherocytosis, Anemia,... ORPHA:822
Machado-Joseph Disease
Impaired vibratory sensation, Bradykinesia, Ataxia, Progressive cerebellar ataxia, Truncal ataxia... OMIM:109150
Immunodeficiency 76
T lymphocytopenia, Lymphopenia, Splenomegaly, B lymphocytopenia OMIM:619164
Immunodeficiency 13
T lymphocytopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, ... OMIM:615518
Elliptocytosis 3
Decreased mean corpuscular volume, Pyropoikilocytosis, Chronic hemolytic anemia, Elliptocytosis OMIM:617948
Spondylometaphyseal Dysplasia, Axial
Reduced sperm motility OMIM:602271
Primary Myelofibrosis
Pancytopenia, Hepatosplenomegaly, Leukocytosis, Thrombocytosis, Splenomegaly, Anemia, Thrombocyto... ORPHA:824
Ciliary Dyskinesia With Defective Radial Spokes
Absent respiratory ciliary axoneme radial spokes, Immotile sperm OMIM:242670
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Decreased circulating IgG level, Hepatosplenomegaly, Leukocytosis, Thin corpus callosum, Anisocyt... OMIM:618278
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Leukocytosis, Anisocytosis, Splenomegaly, Heinz bodies, Retic... OMIM:300908
Ciliary Dyskinesia, Primary, 26
Absent outer dynein arms, Infertility, Reduced sperm motility OMIM:615500
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Gliosis, Microcephaly, Progressive microcephaly OMIM:614498
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Anemia, Increased mean corpuscular volume, Abnormal erythrocyte morphology, Poikilo... ORPHA:98870
Microcephaly 10, Primary, Autosomal Recessive
Gliosis, Cerebral atrophy, Microcephaly OMIM:615095
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior ORPHA:436151
Glucagonoma
Elevated circulating growth hormone concentration, Increased circulating prolactin concentration,... ORPHA:97280
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Gliosis, Cerebral atrophy OMIM:105550
Spherocytosis, Type 5
Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:612690
Orotic Aciduria
Poikilocytosis, Folate-unresponsive megaloblastic anemia, Anisocytosis, Impaired T cell function,... OMIM:258900
Hereditary Cryohydrocytosis With Reduced Stomatin
Hepatosplenomegaly, Ataxia, Microcephaly, Decreased thalamic volume, Intracerebral periventricula... ORPHA:168577
Ciliary Dyskinesia, Primary, 11
Abnormal central microtubular pair morphology of respiratory motile cilia, Reduced sperm motility OMIM:612649
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Subcortical white matter calcifications, Diffuse cerebral atrophy, Gliosis, Thrombocytopenia, Hyp... ORPHA:3240
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neu... ORPHA:231154
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anisocytosis, Anemia, Elliptocytosis, Decreased mean corpuscular volume, Poikilocytosis OMIM:616959
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Cryptorchidism, Testicular neoplasm, Aplasia/hy... ORPHA:754
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Anemia of inadequate production, Hemolytic anemia, Elliptocytosis OMIM:166910
Cryohydrocytosis
Reticulocytosis, Splenomegaly, Hemolytic anemia, Stomatocytosis OMIM:185020
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Gliosis, Ataxia OMIM:220111
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Mannosidosis, Alpha B, Lysosomal
Vacuolated lymphocytes, Splenomegaly, Decreased circulating antibody level, Gait ataxia, Cerebral... OMIM:248500
Spherocytosis, Type 4
Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:612653
L-2-Hydroxyglutaric Aciduria
Gliosis, Leukoencephalopathy, Corpus callosum atrophy OMIM:236792
Spinocerebellar Ataxia, X-Linked 3
Gliosis, Dysmetria, Lethargy OMIM:301790
Immunodeficiency 14A, Autosomal Dominant
Decreased proportion of class-switched memory B cells, T lymphocytopenia, Splenomegaly, Increased... OMIM:615513
Lissencephaly, X-Linked, 2
Gliosis, Lissencephaly, Pachygyria, Agenesis of corpus callosum OMIM:300215
Pick Disease Of Brain
Gliosis OMIM:172700
Megaloblastic Anemia, Folate-Responsive
Hypersegmentation of neutrophil nuclei, Schistocytosis, Episodic hemolytic anemia, Folate-respons... OMIM:601775
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Cerebral atrophy, Hypoplasia of the corpus callosum, Abnormal astrocyte morphology, Tip-toe gait,... ORPHA:83629
Spherocytosis, Type 3
Spherocytosis, Hemolytic anemia OMIM:270970
Sitosterolemia 1
Impaired platelet aggregation, Giant platelets, Splenomegaly, Chronic hemolytic anemia, Stomatocy... OMIM:210250
Ciliary Dyskinesia, Primary, 15
Abnormal axonemal organization of respiratory motile cilia, Infertility, Immotile sperm OMIM:613808
Spherocytosis, Type 1
Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:182900
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Inability to walk, Ataxia, Microcephaly, Diffuse cerebral atrophy, Hypoplasia of the corpus callo... OMIM:617193
Familial Pseudohyperkalemia
Reticulocytosis, Episodic hemolytic anemia, Increased mean corpuscular volume, Stomatocytosis ORPHA:90044
Elliptocytosis 2
Reticulocytosis, Hemolytic anemia, Elliptocytosis OMIM:130600
Hereditary Late-Onset Parkinson Disease
Shuffling gait, Bradykinesia, Akinesia, Lewy bodies, Cerebral cortical atrophy, Gliosis ORPHA:411602
Leigh Syndrome
Hypoplasia of the corpus callosum, Choreoathetosis, Agenesis of corpus callosum, Abnormal thalami... ORPHA:506
Rh Deficiency Syndrome
Macrocytic anemia, Hepatosplenomegaly, Anisocytosis, Spherocytosis, Hemolytic anemia, Stomatocyto... ORPHA:71275
Supranuclear Palsy, Progressive, 2
Neurofibrillary tangles, Bradykinesia, Akinesia, Neuronal loss in basal ganglia, Gliosis, Gait im... OMIM:609454
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Gliosis, Cerebral edema OMIM:608033
Overhydrated Hereditary Stomatocytosis
Reticulocytosis, Splenomegaly, Hemolytic anemia, Stomatocytosis OMIM:185000
Combined Oxidative Phosphorylation Deficiency 24
Gliosis, Microcephaly, Agenesis of corpus callosum, Hypoplasia of the corpus callosum OMIM:616239
Supranuclear Palsy, Progressive, 1
Neurofibrillary tangles, Bradykinesia, Akinesia, Neuronal loss in basal ganglia, Gliosis, Gait im... OMIM:601104
Ovalocytosis, Southeast Asian
Hemolytic anemia, Elliptocytosis OMIM:166900
Elliptocytosis 1
Elliptocytosis, Splenomegaly, Hemolytic anemia OMIM:611804
Ciliary Dyskinesia, Primary, 22
Infertility, Absent inner and outer dynein arms, Reduced sperm motility OMIM:615444
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Splenomegaly ORPHA:66518
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Gliosis, Cerebral cortical neurodegeneration, Ataxia, Astrocytosis OMIM:203700
Dopa-Responsive Dystonia
Abnormal social behavior, Inability to walk, Lethargy, Fatigable weakness, Gait disturbance, Diff... ORPHA:255
Immunodeficiency 68
T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count, Abscess OMIM:612260
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Neurofibrillary tangles, Lewy bodies, Cerebral cortical atrophy, Gliosis, Dilation of lateral ven... OMIM:607485
Partial Androgen Insensitivity Syndrome
Male sexual dysfunction, Aplasia of the uterus, Perineal hypospadias, Primary amenorrhea, Azoospe... ORPHA:90797
Progressive Multifocal Leukoencephalopathy
Dysmetria, Somatic sensory dysfunction, Abnormal astrocyte morphology, Abnormal oligodendroglia m... ORPHA:217260
Rh-Null, Regulator Type
Hemolytic anemia, Stomatocytosis OMIM:268150
11Q22.2Q22.3 Microdeletion Syndrome
Hypoplasia of the corpus callosum, Poor eye contact, Abnormal social behavior ORPHA:444002
Ciliary Dyskinesia, Primary, 9
Absent outer dynein arms, Male infertility OMIM:612444
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Splenomegaly, Increased mean platelet volume, Stomatocytosis OMIM:153670
Tay-Sachs Disease
Dysmetria, Abnormal thalamic MRI signal intensity, Hypointensity of cerebral white matter on MRI,... ORPHA:845
Multiple Acyl-Coa Dehydrogenase Deficiency
Gliosis, Fatigable weakness of neck muscles, Inability to walk ORPHA:26791
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, T lymphocytopenia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly... ORPHA:169154
Amme Complex
Elliptocytosis OMIM:300194
Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism
Gliosis, Trophic limb changes OMIM:118301
Immunodeficiency 57 With Autoinflammation
T lymphocytopenia, B lymphocytopenia, Perianal abscess, Reduced natural killer cell count OMIM:618108
Red Cell Permeability Defect
Elliptocytosis OMIM:179650
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, T lymphocytopenia, Leukopenia, Hepatosplenomegaly, Impaired neutrophil chemotaxis, ... OMIM:618986
Kleefstra Syndrome Due To A Point Mutation
Gliosis, Microcephaly, Abnormal cerebral white matter morphology, Hypoplasia of the corpus callosum ORPHA:261652
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Gliosis, Cerebral atrophy, Hypoplasia of the corpus callosum OMIM:602613
Thrombotic Thrombocytopenic Purpura, Hereditary
Reticulocytosis, Microangiopathic hemolytic anemia, Schistocytosis, Thrombocytopenia OMIM:274150
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Reduced progressive sperm motility OMIM:619608
Early-Onset Autosomal Dominant Alzheimer Disease
Neurofibrillary tangles, Cerebral cortical atrophy, Ataxia, Abnormal social behavior ORPHA:1020
47,Xyy Syndrome
Varicocele, Cryptorchidism, Micropenis, Azoospermia, Oligospermia, Macroorchidism, Male infertili... ORPHA:8
Lamb-Shaffer Syndrome
Microcephaly, Ataxia, Abnormal social behavior ORPHA:530983
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Ciliary Dyskinesia, Primary, 19
Absent inner and outer dynein arms, Male infertility OMIM:614935
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Microangiopathic hemolytic anemia, Schistocytosis, Thrombocytopenia OMIM:235400
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility ORPHA:2239
Ciliary Dyskinesia, Primary, 5
Reduced sperm motility OMIM:608647
Complete Androgen Insensitivity Syndrome
Abnormality of the uterine cervix, Aplasia of the uterus, Primary amenorrhea, Abnormal morphology... ORPHA:99429
Immunodeficiency 85 And Autoimmunity
T lymphocytopenia, Decreased proportion of memory B cells, Decreased proportion of CD4-positive h... OMIM:619510
46,Xy Partial Gonadal Dysgenesis
Primary amenorrhea, Cryptorchidism, Abnormal labia morphology, Male infertility, Abnormal sex det... ORPHA:251510
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Cerebral atrophy, Fatigable weakness of speech muscles, Inability to walk, Athetosis, Splenomegal... ORPHA:404454
Metachromatic Leukodystrophy, Late Infantile Form
Abnormal social behavior, Gait ataxia, Progressive gait ataxia, Tip-toe gait, Punctate periventri... ORPHA:309256
Classic Galactosemia
Decreased fertility in females, Primary amenorrhea, Cryptorchidism, Secondary amenorrhea, Male in... ORPHA:79239
8P11.2 Deletion Syndrome
Spherocytosis, Microcephaly, Hemolytic anemia, Splenomegaly ORPHA:251066
D-Bifunctional Protein Deficiency
Cerebral dysmyelination, Splenomegaly, Corpus callosum atrophy, Cortical dysplasia, Hypoplasia of... OMIM:261515
Cockayne Syndrome
Cerebral calcification, Cerebral atrophy, Cerebral dysmyelination, Somatic sensory dysfunction, P... ORPHA:191
Multiple Acyl-Coa Dehydrogenase Deficiency
Gliosis, Pachygyria OMIM:231680
Molybdenum Cofactor Deficiency, Complementation Group B
Gliosis, Microcephaly, Cerebral atrophy, Hypoplasia of the corpus callosum OMIM:252160
Congenital Erythropoietic Porphyria
Leukopenia, Anisocytosis, Splenomegaly, Paresthesia, Erythroid hyperplasia, Hemolytic anemia, Ret... ORPHA:79277
Primary Ciliary Dyskinesia
Female infertility, Abnormal sperm motility, Male infertility ORPHA:244
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypoplastic spleen, T lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin... OMIM:619313
Osteopetrosis With Renal Tubular Acidosis
Pancytopenia, Cerebral calcification, Leukopenia, Bone marrow hypocellularity, Anemia, Abnormal p... ORPHA:2785
Cerebrotendinous Xanthomatosis
Somatic sensory dysfunction, Hyperintensity of cerebral white matter on MRI, Abnormal globus pall... ORPHA:909
Lead Poisoning
Abnormal sperm morphology, Infertility, Decreased female libido, Miscarriage, Oligospermia, Decre... ORPHA:330015
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Microcephaly, Cerebral cortical atrophy, Olfactory lobe agenesis, Hypoplasia of the corpus callos... OMIM:300868
Molybdenum Cofactor Deficiency, Complementation Group A
Gliosis, Microcephaly, Cerebral atrophy, Hypoplasia of the corpus callosum OMIM:252150
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Hypoplasia of the corpus callosum, Posterior pituitary hypoplasia, Ataxia, Microcephaly, Cerebral... ORPHA:268261
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Aplasia of the uterus, Irregular menstruation, Primary amenorrhea, Precocious puberty in females,... ORPHA:90793
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Schistocytosis, Leukocytosis, Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:90038
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Abnormal cortical gyration, Dysmetria, Abnormal social behavior, Hypoplastic hippocampus, Ataxia,... ORPHA:314647
Cutis Laxa, Autosomal Recessive, Type Iid
Gliosis, Hypoplasia of the corpus callosum OMIM:617403
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome
Elliptocytosis ORPHA:86818
Metachromatic Leukodystrophy, Juvenile Form
Punctate periventricular T2 hyperintense foci, Progressive gait ataxia, Abnormal social behavior ORPHA:309263
Metachromatic Leukodystrophy, Adult Form
Abnormal social behavior, Chorea, Progressive gait ataxia, Difficulty walking, Punctate periventr... ORPHA:309271
Fanconi Anemia, Complementation Group A
Pancytopenia, Leukemia, Neutropenia, Anemia, Male infertility, Reticulocytopenia, Hypergonadotrop... OMIM:227650
Papillorenal Syndrome
Gliosis OMIM:120330
Aromatase Deficiency
Primary amenorrhea, Cryptorchidism, Ambiguous genitalia, female, Enlarged polycystic ovaries, Mal... ORPHA:91
Gabriele-De Vries Syndrome
Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Gliosis, Decreased response to gr... ORPHA:506358
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
T lymphocytopenia, Lymphopenia, Impaired lymphocyte transformation with phytohemagglutinin, Absen... OMIM:600802
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Anemia, Elliptocytosis OMIM:300990
45,X/46,Xy Mixed Gonadal Dysgenesis
Ovotestis, Chordee, Cryptorchidism, Male infertility, Bilateral cryptorchidism, Ambiguous genital... ORPHA:1772
Ciliary Dyskinesia, Primary, 1
Absent outer dynein arms, Male infertility OMIM:244400
Female Restricted Epilepsy With Intellectual Disability
Abnormal social behavior ORPHA:101039
Fg Syndrome Type 1
Aplasia/Hypoplasia of the corpus callosum, Small pituitary gland, Broad-based gait, Abnormal soci... ORPHA:93932
Hereditary Amyloidosis With Primary Renal Involvement
Primary testicular failure, Oligospermia, Male infertility, Abnormal testis morphology, Hypogonadism ORPHA:85450
Diets-Jongmans Syndrome
Gliosis, Thick corpus callosum OMIM:618846
Dihydropyrimidine Dehydrogenase Deficiency
Cerebral atrophy, Abnormal social behavior, Hyperintensity of cerebral white matter on MRI, Inabi... ORPHA:1675
Niemann-Pick Disease Type C
Cerebral atrophy, Hypoplasia of the corpus callosum, Hepatosplenomegaly, Abnormal social behavior... ORPHA:646
Autosomal Dominant Polycystic Kidney Disease
Reduced sperm motility ORPHA:730
Bloom Syndrome
Azoospermia, Acute myeloid leukemia, Abnormal proportion of CD8-positive T cells, Oligospermia, M... ORPHA:125
Renal Cysts And Diabetes Syndrome
Epididymal cyst, Atretic vas deferens, Bicornuate uterus, Hypoplasia of the uterus, Hypospadias, ... OMIM:137920
Carney Complex
Testicular adrenal rest tumor, Abnormal morphology of female internal genitalia, Testicular neopl... ORPHA:1359
48,Xxxy Syndrome
Abnormal social behavior ORPHA:96263
Prader-Willi Syndrome Due To Translocation
Impaired social interactions, Anterior pituitary hypoplasia, Abnormal social behavior, Microcepha... ORPHA:177907
Childhood Absence Epilepsy
Abnormal social behavior ORPHA:64280
Koolen-De Vries Syndrome Due To A Point Mutation
Pineal cyst, Agenesis of corpus callosum, Abnormal social behavior, Microcephaly, Overfriendlines... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Pineal cyst, Agenesis of corpus callosum, Abnormal social behavior, Microcephaly, Overfriendlines... ORPHA:363958
Tuberous Sclerosis Complex
Cortical tubers, Abnormal social behavior, Pituitary adenoma, Cortical dysplasia, Subependymal gi... ORPHA:805
Mend Syndrome
Hypoplasia of the corpus callosum, Abnormal social behavior ORPHA:401973
Williams Syndrome
Dysmetria, Abnormality of the diencephalon, Abnormal social behavior, Ataxia, Microcephaly, Cereb... ORPHA:904
Cystinosis, Nephropathic
Male hypogonadism, Male infertility OMIM:219800
Cystic Fibrosis
Male infertility OMIM:219700
Noonan Syndrome 1
Amegakaryocytic thrombocytopenia, Hypogonadism, Male infertility, Juvenile myelomonocytic leukemia OMIM:163950

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 Vps13a

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 Vps13a.

There are 5 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Vps13atm1b(EUCOMM)Wtsi PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation. Nature immunology (December 2019)