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Gene: Myh9 MGI:107717

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Gene Summary

Name:
myosin, heavy polypeptide 9, non-muscle
Synonyms:
D0Jmb2,  myosin IIA,  Myhn1,  E030044M24Rik,  NMHC II-A,  Myhn-1,  Fltn

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
increased circulating aspartate transaminase level Myh9tm1a(EUCOMM)Wtsi HET Early adult 1.72×10-05

Download data as:  TSV  XLS

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

lacZ Expression

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 50% (2 of 4)
Aorta N/A heterozygote 100% (4 of 4)
Blood vessel N/A heterozygote 100% (4 of 4)
Bone N/A heterozygote 100% (4 of 4)
Brain N/A heterozygote 100% (4 of 4)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 50% (2 of 4)
Cartilage tissue N/A heterozygote 100% (4 of 4)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 50% (2 of 4)
Gall bladder N/A heterozygote 100% (4 of 4)
Heart N/A heterozygote 25% (1 of 4)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 75% (3 of 4)
Large intestine N/A heterozygote 100% (4 of 4)
Liver N/A heterozygote 100% (4 of 4)
Lower urinary tract N/A heterozygote 100% (4 of 4)
Lung N/A heterozygote 100% (4 of 4)
Lymph node N/A heterozygote 50% (2 of 4)
Mammary gland N/A heterozygote 25% (1 of 4)
Esophagus N/A heterozygote 100% (4 of 4)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote 50% (2 of 4)
Oviduct N/A heterozygote 50% (2 of 4)
Pancreas N/A heterozygote 50% (2 of 4)
Parathyroid gland N/A heterozygote 75% (3 of 4)
Peripheral nervous system N/A heterozygote 100% (4 of 4)
Peyer's patch N/A heterozygote 75% (3 of 4)
Pituitary gland N/A heterozygote 100% (4 of 4)
Prostate gland N/A heterozygote 50% (2 of 4)
Skeletal muscle tissue N/A heterozygote 100% (4 of 4)
Skin N/A heterozygote 100% (4 of 4)
Small intestine N/A heterozygote 100% (4 of 4)
Spinal cord N/A heterozygote 100% (4 of 4)
Spleen N/A heterozygote 75% (3 of 4)
Stomach N/A heterozygote 100% (4 of 4)
Striatum N/A heterozygote Not available
Testis N/A heterozygote 50% (2 of 4)
Thymus N/A heterozygote 50% (2 of 4)
Thyroid gland N/A heterozygote 75% (3 of 4)
Trachea N/A heterozygote 75% (3 of 4)
Uterus N/A heterozygote 50% (2 of 4)
White adipose tissue N/A heterozygote 75% (3 of 4)
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 0.79% (4 of 506)
aorta 0.2% (1 of 500)
blood vessel 0.0%
bone 0.0%
brain 0.96% (5 of 522)
brainstem 0.38% (2 of 520)
brown adipose tissue 0.0%
cartilage tissue 0.2% (1 of 500)
cerebellum 0.58% (3 of 521)
cerebral cortex 0.39% (2 of 509)
eye 0.0%
gall bladder 0.0%
heart 0.4% (2 of 502)
hippocampus 0.61% (3 of 492)
hypothalamus 0.41% (2 of 483)
kidney 5.04% (25 of 496)
large intestine 4.96% (25 of 504)
liver 0.0%
lower urinary tract 0.2% (1 of 508)
lung 0.2% (1 of 507)
lymph node 0.2% (1 of 498)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.0%
ovary 0.2% (1 of 492)
oviduct 0.0%
pancreas 0.97% (5 of 513)
parathyroid gland 0.0%
peripheral nervous system 0.19% (1 of 513)
peyer's patch 0.67% (1 of 149)
pituitary gland 0.2% (1 of 508)
prostate gland 2.02% (10 of 496)
skeletal muscle tissue 0.0%
skin 0.19% (1 of 515)
small intestine 5.25% (26 of 495)
spinal cord 0.6% (3 of 503)
spleen 0.59% (3 of 509)
stomach 3.85% (20 of 519)
striatum 0.59% (3 of 507)
testis 0.98% (5 of 512)
thymus 0.2% (1 of 507)
thyroid gland 3.12% (16 of 512)
trachea 0.57% (3 of 523)
uterus 0.39% (2 of 515)
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.

Histopathology

Images

2 Images

View images
Legacy Phenotype Associated Images
Myh9tm1a(EUCOMM)Wtsi
forearm, HET, Female, WTSI
Myh9tm1a(EUCOMM)Wtsi
head, HET, Female, WTSI
Myh9tm1a(EUCOMM)Wtsi
body, HET, Female, WTSI
Myh9tm1a(EUCOMM)Wtsi
head, WT, Male, WTSI
Myh9tm1a(EUCOMM)Wtsi
head, WT, Male, WTSI

View all 84 images

Myh9tm1a(EUCOMM)Wtsi
back skin, HET, Female, WTSI
Myh9tm1a(EUCOMM)Wtsi
back skin, HET, Female, WTSI
Myh9tm1a(EUCOMM)Wtsi
back skin, HET, Female, WTSI

Human diseases caused by Myh9 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 Myh9 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Deafness, Autosomal Dominant 17
High-frequency hearing impairment OMIM:603622
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Impaired epinephrine-induced platelet aggregation, Neutrophil inclusion bodies, Bruising suscepti... OMIM:155100
Myh9-Related Disease
Sensorineural hearing impairment, Neutrophil inclusion bodies, Nephritis, Bruising susceptibility... ORPHA:182050

The table below shows human diseases predicted to be associated to Myh9 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Nephrotic Syndrome, Type 24
Focal segmental glomerulosclerosis, Podocyte foot process effacement, Renal cortical hyperechogen... OMIM:619263
Focal Segmental Glomerulosclerosis 9
Focal segmental glomerulosclerosis, Nephrotic syndrome OMIM:616220
Auditory Neuropathy, Autosomal Dominant 3
Abnormal speech discrimination, Hearing impairment OMIM:619832
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated circulating creatine kinase concentration ORPHA:206599
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal speech discrimination, Absence of acoustic reflex, Abn... OMIM:609129
Focal Segmental Glomerulosclerosis 4, Susceptibility To
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease OMIM:612551
Deafness, Autosomal Recessive 1B
Vestibular dysfunction, Hearing impairment OMIM:612645
Deafness, Autosomal Recessive 84A
Vestibular dysfunction, Hearing impairment OMIM:613391
Deafness, Autosomal Dominant 65
Vestibular dysfunction, Progressive hearing impairment OMIM:616044
Deafness, Aminoglycoside-Induced
Aminoglycoside-induced hearing loss OMIM:580000
Deafness, Autosomal Dominant 17
High-frequency hearing impairment OMIM:603622
Deafness, Autosomal Dominant 7
High-frequency hearing impairment OMIM:601412
Deafness, Autosomal Dominant 2B
High-frequency hearing impairment OMIM:612644
Deafness, Autosomal Recessive 91
Progressive hearing impairment OMIM:613453
Deafness, Autosomal Recessive 102
Profound hearing impairment OMIM:615974
Deafness, Autosomal Dominant 18
Progressive hearing impairment OMIM:606012
Deafness, Autosomal Dominant 73
Hearing impairment OMIM:617663
Tune Deafness
Hearing impairment OMIM:191200
Deafness, Autosomal Recessive 89
Hearing impairment OMIM:613916
Deafness, Autosomal Dominant 74
Hearing impairment OMIM:618140
Deafness, Autosomal Recessive 33
Hearing impairment OMIM:607239
Deafness, Autosomal Dominant 56
Hearing impairment OMIM:615629
Deafness, Autosomal Dominant 54
Hearing impairment OMIM:615649
Deafness, Autosomal Dominant 52
Hearing impairment OMIM:607683
Deafness, Autosomal Recessive 106
Hearing impairment OMIM:617637
Deafness, Autosomal Recessive 107
Hearing impairment OMIM:617639
Deafness, Autosomal Dominant 15
Hearing impairment OMIM:602459
Deafness, Autosomal Recessive 18B
Hearing impairment OMIM:614945
Deafness, Autosomal Recessive 65
Hearing impairment OMIM:610248
Deafness, Autosomal Recessive 86
Hearing impairment OMIM:614617
Deafness, Autosomal Dominant 4B
Hearing impairment OMIM:614614
Deafness, Autosomal Dominant 24
Hearing impairment OMIM:606282
Deafness, Autosomal Recessive 6
Hearing impairment OMIM:600971
Deafness, Autosomal Dominant 51
Hearing impairment OMIM:613558
Deafness, Autosomal Recessive 96
Hearing impairment OMIM:614414
Deafness, Autosomal Recessive 93
Hearing impairment OMIM:614899
Deafness, Autosomal Recessive 55
Hearing impairment OMIM:609952
Deafness, Autosomal Recessive 47
Hearing impairment OMIM:609946
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses, Absence of acoustic reflex OMIM:601071
Nephrotic Syndrome, Type 13
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic s... OMIM:616893
Facial Paresis, Hereditary Congenital, 2
Hearing impairment, Facial palsy OMIM:604185
Pseudo-Von Willebrand Disease
Intermittent thrombocytopenia, Prolonged bleeding time OMIM:177820
Nephrotic Syndrome, Type 23
Mesangial hypercellularity, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclero... OMIM:619201
Platelet Glycoprotein Iv Deficiency
Abnormal bleeding, Thrombocytopenia, Giant platelets, Prolonged bleeding time OMIM:608404
Nephrotic Syndrome, Type 26
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Steroid-r... OMIM:620049
Hemochromatosis, Type 5
Increased circulating ferritin concentration OMIM:615517
Deafness, Autosomal Recessive 25
Hearing impairment, Progressive sensorineural hearing impairment OMIM:613285
Plasma Fibronectin Deficiency
Reduced circulating fibronectin level OMIM:614101
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia
Hearing impairment OMIM:615266
Deafness, Autosomal Recessive 30
Progressive hearing impairment, Progressive sensorineural hearing impairment OMIM:607101
Nephrotic Syndrome, Type 18
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan... OMIM:618177
Usher Syndrome, Type Id
Vestibular dysfunction, Hearing impairment OMIM:601067
Nephrotic Syndrome, Type 20
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:301028
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:616032
Nephrotic Syndrome, Type 19
Focal segmental glomerulosclerosis, Chronic kidney disease, Proteinuria, Steroid-resistant nephro... OMIM:618178
Fechtner syndrome
Neutrophil inclusion bodies, Nephritis, Bruising susceptibility, Abnormal bleeding, Menorrhagia, ... OMIM:153640
Deafness, Autosomal Recessive 74
Hearing impairment OMIM:613718
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Proteinuria, Renal insufficiency, Stage 5 chronic kidney dise... OMIM:256020
Deafness, Autosomal Recessive 13
Sensorineural hearing impairment, Hearing impairment OMIM:603098
Deafness, Autosomal Recessive 29
Sensorineural hearing impairment, Hearing impairment OMIM:614035
Deafness, Autosomal Recessive 57
Sensorineural hearing impairment, Hearing impairment OMIM:618003
Deafness, Autosomal Recessive 20
Sensorineural hearing impairment, Hearing impairment OMIM:604060
Keratoderma, Palmoplantar, With Deafness
Hearing impairment OMIM:148350
Focal Segmental Glomerulosclerosis 7
Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal hypoplasia, Proteinuria, Stage 5 ch... OMIM:616002
Thrombocytopenia, Cyclic
Cyclic neutropenia, Abnormal bleeding, Thrombocytopenia, Neutropenia OMIM:188020
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Vestibular dysf... OMIM:616515
Nephrotic Syndrome, Type 4
Nephrotic syndrome, Diffuse mesangial sclerosis, Nephroblastoma, Focal segmental glomeruloscleros... OMIM:256370
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy
Focal segmental glomerulosclerosis, Nephropathy, IgA deposition in the glomerulus OMIM:182690
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Impaired epinephrine-induced platelet aggregation, Neutrophil inclusion bodies, Bruising suscepti... OMIM:155100
Deafness, Autosomal Dominant 49
Sensorineural hearing impairment, Progressive hearing impairment OMIM:608372
Deafness, Mid-Tone Neural
Sensorineural hearing impairment, Progressive hearing impairment OMIM:124700
Deafness, X-Linked 4
Sensorineural hearing impairment, High-frequency hearing impairment OMIM:300066
Bernard-Soulier Syndrome
Impaired ristocetin-induced platelet aggregation, Abnormal bleeding, Prolonged bleeding after den... OMIM:231200
Thrombocytopenia 7
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... OMIM:619130
Thrombocytopenic Purpura, Autoimmune
Abnormal bleeding, Thrombocytopenia OMIM:188030
Nephrotic Syndrome, Type 12
Diffuse mesangial sclerosis, Steroid-resistant nephrotic syndrome, Hematuria, Focal segmental glo... OMIM:616892
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Fibromatosis, Gingival, 1
Hearing impairment OMIM:135300
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Splenomegaly, Abnormal bleeding, Abnormal platelet function, Anemia, Thrombo... ORPHA:231393
Myh9-Related Disease
Sensorineural hearing impairment, Neutrophil inclusion bodies, Nephritis, Bruising susceptibility... ORPHA:182050
Glanzmann Thrombasthenia 2
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... OMIM:619267
Deafness, Autosomal Recessive 70, With Or Without Adult-Onset Neurodegeneration
Vestibular dysfunction, Hearing impairment OMIM:614934
Nephrotic Syndrome, Type 17
Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Microscopi... OMIM:618176
Athrombia, Essential
Abnormal bleeding, Impaired platelet aggregation, Impaired platelet adhesion, Prolonged bleeding ... OMIM:209050
Thrombocytopenia 2
Bruising susceptibility, Thrombocytopenia, Leukocytosis OMIM:188000
Glanzmann Thrombasthenia 1
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... OMIM:273800
Focal Segmental Glomerulosclerosis 2
Chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Stag... OMIM:603965
Deafness, Autosomal Recessive 84B
Sensorineural hearing impairment, Vestibular hypofunction OMIM:614944
Deafness, Autosomal Recessive 110
Sensorineural hearing impairment, Vestibular dysfunction OMIM:618094
Deafness, Autosomal Recessive 1A
Sensorineural hearing impairment, Vestibular dysfunction OMIM:220290
Deafness, Autosomal Dominant 71
Sensorineural hearing impairment, Vestibular dysfunction OMIM:617605
Deafness, Autosomal Dominant 81
Sensorineural hearing impairment, Vestibular dysfunction OMIM:619500
Deafness, Autosomal Recessive 7
Sensorineural hearing impairment, Vestibular dysfunction OMIM:600974
Nephrotic Syndrome, Type 7
Nephrotic syndrome, Hemolytic anemia, Thickened glomerular basement membrane, Proteinuria, Acute ... OMIM:615008
Atypical Hemolytic Uremic Syndrome
Hematuria, Acute kidney injury, Proteinuria, Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:2134
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di... OMIM:613237
Von Willebrand Disease, X-Linked Form
Abnormal bleeding, Prolonged bleeding time OMIM:314560
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia, Bruising susceptibility OMIM:614200
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Focal segmental glomerulosclerosis, Hematuria, Proteinuria, Renal insufficiency OMIM:607832
Platelet Disorder, Undefined
Abnormal bleeding, Thrombocytopenia, Impaired platelet aggregation, Prolonged bleeding time OMIM:173420
Slc35A1-Cdg
Subcutaneous hemorrhage, Abnormal bleeding, Pulmonary hemorrhage, Giant platelets, Neutropenia, T... ORPHA:238459
Deafness, Autosomal Dominant 20
Bilateral sensorineural hearing impairment, Progressive sensorineural hearing impairment OMIM:604717
Deafness, Autosomal Dominant 6
Low-frequency sensorineural hearing impairment, Progressive sensorineural hearing impairment OMIM:600965
Bleeding Disorder, Platelet-Type, 16
Petechiae, Abnormal bleeding, Impaired platelet aggregation, Macrothrombocytopenia, Giant platele... OMIM:187800
Deafness, Autosomal Dominant 22
Sensorineural hearing impairment, Progressive sensorineural hearing impairment OMIM:606346
Deafness, Sensorineural, Autosomal-Mitochondrial Type
Sensorineural hearing impairment, Progressive sensorineural hearing impairment OMIM:221745
Deafness, Autosomal Recessive 15
Sensorineural hearing impairment, Prelingual sensorineural hearing impairment OMIM:601869
Deafness, Autosomal Recessive 79
Sensorineural hearing impairment, Progressive sensorineural hearing impairment OMIM:613307
Cochleosaccular Degeneration With Progressive Cataracts
Hearing impairment OMIM:120040
Deafness, Autosomal Recessive 67
Sensorineural hearing impairment, Bilateral sensorineural hearing impairment OMIM:610265
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Post-partum hemorrhage, Menorrhagia, Impaired platelet aggregation, Macrothrombocytopenia, Thromb... OMIM:124900
Platelet Signal Processing Defect
Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation... OMIM:173590
Bleeding Disorder, Platelet-Type, 24
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... OMIM:619271
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Chronic kidney disease, Renal tubular atrophy, Hyperechogenic kidneys, Tubulointerstitial fibrosi... OMIM:613092
Thrombocytopenia With Beta-Thalassemia, X-Linked
Petechiae, Bruising susceptibility, Splenomegaly, Hemolytic anemia, Reticulocytosis, Thrombocytop... OMIM:314050
Deafness, Autosomal Recessive 17
Sensorineural hearing impairment OMIM:603010
Deafness, Autosomal Recessive 8
Sensorineural hearing impairment OMIM:601072
Deafness, Autosomal Recessive 26
Sensorineural hearing impairment OMIM:605428
Deafness, Autosomal Dominant 48
Sensorineural hearing impairment OMIM:607841
Deafness, Autosomal Dominant 40
Sensorineural hearing impairment OMIM:616357
Deafness, Autosomal Dominant 37
Sensorineural hearing impairment OMIM:618533
Deafness, Autosomal Dominant 75
Sensorineural hearing impairment OMIM:618778
Deafness, Autosomal Dominant 76
Sensorineural hearing impairment OMIM:618787
Deafness, Autosomal Recessive 14
Sensorineural hearing impairment OMIM:603678
Deafness, Autosomal Recessive 27
Sensorineural hearing impairment OMIM:605818
Deafness, Autosomal Recessive 68
Sensorineural hearing impairment OMIM:610419
Deafness, Autosomal Recessive 21
Sensorineural hearing impairment OMIM:603629
Deafness, Autosomal Recessive 66
Sensorineural hearing impairment OMIM:610212
Deafness, Autosomal Recessive 5
Sensorineural hearing impairment OMIM:600792
Deafness, Autosomal Recessive 59
Sensorineural hearing impairment OMIM:610220
Deafness, Autosomal Dominant 59
Sensorineural hearing impairment OMIM:612642
Deafness, Autosomal Recessive 61
Sensorineural hearing impairment OMIM:613865
Deafness, Autosomal Recessive 117
Sensorineural hearing impairment OMIM:619174
Deafness, Autosomal Recessive 22
Sensorineural hearing impairment OMIM:607039
Deafness, Autosomal Dominant 21
Sensorineural hearing impairment OMIM:607017
Deafness, Autosomal Dominant 68
Sensorineural hearing impairment OMIM:616707
Deafness, Autosomal Recessive 97
Sensorineural hearing impairment OMIM:616705
Deafness, Autosomal Recessive 42
Sensorineural hearing impairment OMIM:609646
Deafness, Autosomal Dominant 66
Sensorineural hearing impairment OMIM:616969
Deafness, Autosomal Dominant 44
Sensorineural hearing impairment OMIM:607453
Deafness, Neural, Congenital Moderate
Sensorineural hearing impairment OMIM:221500
Deafness, Autosomal Dominant 84
Sensorineural hearing impairment OMIM:619810
Deafness, X-Linked 1
Sensorineural hearing impairment OMIM:304500
Deafness, Autosomal Dominant 69
Sensorineural hearing impairment OMIM:616697
Deafness, Autosomal Recessive 113
Sensorineural hearing impairment OMIM:618410
Neuropathy, Hereditary Motor And Sensory, With Deafness, Mental Retardation, And Absent Sensory Large Myelinated Fibers
Sensorineural hearing impairment OMIM:214370
Deafness, Autosomal Recessive 100
Sensorineural hearing impairment OMIM:618422
Deafness, Autosomal Recessive 114
Sensorineural hearing impairment OMIM:618456
Deafness, Autosomal Recessive 115
Sensorineural hearing impairment OMIM:618457
Deafness, Autosomal Recessive 99
Sensorineural hearing impairment OMIM:618481
Deafness, Autosomal Recessive 112
Sensorineural hearing impairment OMIM:618257
Deafness, Y-Linked 2
Sensorineural hearing impairment OMIM:400047
Deafness, Autosomal Dominant 10
Sensorineural hearing impairment OMIM:601316
Deafness, Autosomal Dominant 3A
Sensorineural hearing impairment OMIM:601544
Deafness, Autosomal Dominant 12
Sensorineural hearing impairment OMIM:601543
Deafness, Autosomal Recessive 16
Sensorineural hearing impairment OMIM:603720
Deafness, Autosomal Recessive 31
Sensorineural hearing impairment OMIM:607084
Deafness, Autosomal Dominant 13
Sensorineural hearing impairment OMIM:601868
Deafness, Autosomal Dominant 27
Sensorineural hearing impairment OMIM:612431
Deafness, Autosomal Recessive 98
Sensorineural hearing impairment OMIM:614861
Deafness, Autosomal Recessive 116
Sensorineural hearing impairment OMIM:619093
Deafness, Autosomal Recessive 23
Sensorineural hearing impairment OMIM:609533
Intellectual Developmental Disorder, X-Linked 46
Sensorineural hearing impairment OMIM:300436
Deafness, Autosomal Dominant 47
Sensorineural hearing impairment OMIM:608652
Deafness, Autosomal Dominant 28
Sensorineural hearing impairment OMIM:608641
Deafness, Autosomal Dominant 53
Sensorineural hearing impairment OMIM:609965
Deafness, Autosomal Dominant 30
Sensorineural hearing impairment OMIM:606451
Deafness, Autosomal Recessive 18A
Sensorineural hearing impairment OMIM:602092
Deafness, Autosomal Recessive 53
Sensorineural hearing impairment OMIM:609706
Deafness, Autosomal Recessive 51
Sensorineural hearing impairment OMIM:609941
Deafness, Autosomal Dominant 25
Sensorineural hearing impairment OMIM:605583
Von Willebrand Disease, Type 3
Joint hemorrhage, Persistent bleeding after trauma, Bruising susceptibility, Abnormal bleeding, M... OMIM:277480
Glomerulopathy With Fibronectin Deposits 2
Nephrotic syndrome, Glomerular deposits, Glomerulomegaly, Renal insufficiency, Proteinuria, Micro... OMIM:601894
Tatsumi Factor Deficiency
Abnormal bleeding, Prolonged bleeding time OMIM:272650
Coenzyme Q10 Deficiency, Primary, 6
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Diffuse mesangial sclerosis OMIM:614650
Focal Segmental Glomerulosclerosis 6
Chronic kidney disease, Nephrotic syndrome, Renal tubular atrophy, Hematuria, Focal segmental glo... OMIM:614131
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Glomerulonephritis, Thrombocytopenia, Hematuria OMIM:314000
Nephrotic Syndrome, Type 10
Podocyte foot process effacement, Minimal change glomerulonephritis, Nephrotic syndrome, Steroid-... OMIM:615861
Storage Pool Platelet Disease
Abnormal bleeding, Acute leukemia, Decreased mean platelet volume, Prolonged bleeding time OMIM:185050
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Nephrotic syndrome, Nephropathy, Focal segmental glomerulosclerosis, Proteinuria, Renal insuffici... OMIM:254900
Nephrotic Syndrome, Type 9
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:615573
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Nephrolithiasis, Chronic kidney disease, Renal tubular atrophy, Hypercalciuria, Low-molecular-wei... OMIM:310468
Glomerulopathy With Fibronectin Deposits 1
Nephrotic syndrome, Nephropathy, Renal insufficiency, Proteinuria, Glomerulopathy, Lobular glomer... OMIM:137950
Oculorenocerebellar Syndrome
Nephropathy, Glomerular sclerosis OMIM:257970
Undritz Anomaly
Hypersegmentation of neutrophil nuclei OMIM:191500
Nephrotic Syndrome, Type 21
Podocyte foot process effacement, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, St... OMIM:618594
Thrombocytopenia, Paris-Trousseau Type
Abnormal bleeding, Thrombocytopenia, Prolonged bleeding time OMIM:188025
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Abnormal dense granule content, Bruising susceptibility, Acute monocytic leukemia, Impaired plate... OMIM:601399
Bleeding Disorder, Platelet-Type, 17
Impaired collagen-induced platelet aggregation, Petechiae, Impaired epinephrine-induced platelet ... OMIM:187900
Focal Segmental Glomerulosclerosis 1
Focal segmental glomerulosclerosis, Anemia, Proteinuria, Stage 5 chronic kidney disease OMIM:603278
Bleeding Disorder, Platelet-Type, 18
Impaired platelet aggregation, Epistaxis, Prolonged bleeding time OMIM:615888
Iga Nephropathy, Susceptibility To, 3
Mesangial hypercellularity, Hematuria, IgA deposition in the glomerulus, Proteinuria, Stage 5 chr... OMIM:616818
Gray Platelet Syndrome
Impaired collagen-induced platelet aggregation, Bruising susceptibility, Splenomegaly, Abnormal b... OMIM:139090
Lipoprotein Glomerulopathy
Glomerulopathy, Mesangial hypercellularity, Renal insufficiency, Proteinuria OMIM:611771
Glanzmann Thrombasthenia
Impaired ristocetin-induced platelet aggregation, Prolonged bleeding following circumcision, Brui... ORPHA:849
Nephrotic Syndrome, Type 3
Nephrotic syndrome, Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Proteinuria,... OMIM:610725
Iga Nephropathy, Susceptibility To, 2
Nephritis, Hematuria, IgA deposition in the glomerulus, Proteinuria, Stage 5 chronic kidney disease OMIM:613944
Nephrotic Syndrome, Type 6
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Tubulointerstitial fibrosis OMIM:614196
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Aminoaciduria, Renal tubular atrophy, Hyposthenuria, Glycosuria, Hypercalciuria, Low-molecular-we... OMIM:308990
Specific Granule Deficiency 1
Absent neutrophil lactoferrin, Hyposegmentation of neutrophil nuclei, Impaired neutrophil bacteri... OMIM:245480
Nephrotic Syndrome, Type 2
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:600995
Nail-Patella-Like Renal Disease
Glomerulopathy, Microscopic hematuria, Renal insufficiency, Proteinuria ORPHA:2613
Giant platelet syndrome with thrombocytopenia
Bruising susceptibility, Prolonged bleeding after dental extraction, Giant platelets, Gastrointes... OMIM:137560
Complement Factor H Deficiency
Thickened glomerular basement membrane, Chronic kidney disease, Hematuria, Glomerular subendothel... OMIM:609814
Immunodeficiency, Common Variable, 6
Mesangial Immune complex deposition, Nephrotic range proteinuria, Macroscopic hematuria, Autoimmu... OMIM:613496
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Glomerulonephritis, Nephrotic syndrome, Renal insufficiency, Glomerular deposits ORPHA:69063
Proteinuria, Chronic Benign
Renal insufficiency, Albuminuria, Proteinuria OMIM:618884
Nephrotic Syndrome, Type 16
Nephrotic syndrome, Hematuria, Proteinuria OMIM:617783
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Impaired platelet aggregation, Macrothrombocytopenia OMIM:613112
Nephrotic Syndrome, Type 22
Nephrotic syndrome, Nephrotic range proteinuria, Thickened glomerular basement membrane, Podocyte... OMIM:619155
+173470 integrin, beta-3
Decreased platelet glycoprotein IIb-IIIa, Neonatal alloimmune thrombocytopenia, Bruising suscepti... OMIM:173470
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Nephrotic syndrome, Podocyte foot process effacement, Impaired lymphocyte transformation with phy... OMIM:617006
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Bleeding Disorder, Platelet-Type, 15
Increased mean platelet volume, Thrombocytopenia, Epistaxis, Platelet anisocytosis OMIM:615193
C3 Glomerulopathy 3
Renal insufficiency, Glomerulonephritis, Hematuria, Stage 5 chronic kidney disease OMIM:614809
Hematuria, Benign Familial
Thin glomerular basement membrane, Hematuria OMIM:141200
Preeclampsia/Eclampsia 1
Thrombocytopenia, Proteinuria OMIM:189800
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology ORPHA:2690
Bleeding Disorder, Platelet-Type, 11
Bruising susceptibility, Menorrhagia, Ecchymosis, Epistaxis, Prolonged bleeding time OMIM:614201
Myelolymphatic Insufficiency
Leukopenia, Hyposegmentation of neutrophil nuclei OMIM:310350
Amegakaryocytic Thrombocytopenia, Congenital
Thrombocytopenia, Amegakaryocytic thrombocytopenia, Pancytopenia OMIM:604498
Alport Syndrome 2, Autosomal Recessive
Nephrotic syndrome, Nephritis, Hematuria, Thickened glomerular basement membrane, Cataract, Renal... OMIM:203780
Alport Syndrome 1, X-Linked
Sensorineural hearing impairment, Anterior lenticonus, Nephrotic syndrome, Nephritis, Thickened g... OMIM:301050
Nephronophthisis 13
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Nephronophthisis, Mu... OMIM:614377
Thrombotic Thrombocytopenic Purpura
Hematuria, Proteinuria, Renal insufficiency, Acute kidney injury, Microangiopathic hemolytic anem... ORPHA:54057
Bleeding Disorder, Platelet-Type, 20
Epistaxis, Thrombocytopenia, Menorrhagia, Bruising susceptibility OMIM:616913
Von Willebrand Disease, Type 2
Epistaxis, Thrombocytopenia, Menorrhagia, Bruising susceptibility OMIM:613554
Gray Platelet Syndrome
Bruising susceptibility, Splenomegaly, Abnormal bleeding, Abnormality of thrombocytes, Thrombocyt... ORPHA:721
Iga Nephropathy, Susceptibility To, 1
Nephritis, Hematuria, IgA deposition in the glomerulus, Proteinuria, Stage 5 chronic kidney disease OMIM:161950
Primary Membranoproliferative Glomerulonephritis
Chronic kidney disease, Nephrotic syndrome, Glomerular subendothelial electron-dense deposits, Ac... ORPHA:54370
Renal Failure, Progressive, With Hypertension
Nephritis, Renal insufficiency, Proteinuria, Microscopic hematuria, Stage 5 chronic kidney disease OMIM:161900
Acquired Partial Lipodystrophy
Lymphocytosis, Proteinuria, Glomerulopathy, Hearing impairment, Microscopic hematuria ORPHA:79087
Meniere Disease
Tinnitus, Vertigo, Hearing impairment OMIM:156000
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Elevated circulating creatine kinase concentration ORPHA:88635
Bleeding Disorder, Platelet-Type, 19
Abnormal bleeding, Menorrhagia, Macrothrombocytopenia, Spontaneous hematomas, Anemia, Epistaxis OMIM:616176
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... OMIM:300835
Galloway-Mowat Syndrome 8
Nephrotic syndrome, Renal tubular atrophy, Hematuria, Focal segmental glomerulosclerosis, Protein... OMIM:618349
Bleeding Disorder, Platelet-Type, 14
Epistaxis, Ecchymosis, Bruising susceptibility, Prolonged bleeding time OMIM:614158
Deafness, Autosomal Dominant 41
Tinnitus, Hearing impairment, Progressive sensorineural hearing impairment OMIM:608224
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Hematuria, Proteinuria, Acute kidney injury, Microangiopathic hemolytic anemia, Anemia, Thrombocy... OMIM:612925
Thrombocytopenia 5
Petechiae, Bruising susceptibility, Neutropenia, Anemia, Thrombocytopenia, Epistaxis OMIM:616216
Hanac Syndrome
Renal insufficiency, Hematuria, Multiple renal cysts ORPHA:73229
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Hematuria, Proteinuria, Acute kidney injury, Microangiopathic hemolytic anemia, Anemia, Thrombocy... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Hematuria, Proteinuria, Acute kidney injury, Microangiopathic hemolytic anemia, Anemia, Thrombocy... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Hematuria, Proteinuria, Acute kidney injury, Microangiopathic hemolytic anemia, Anemia, Thrombocy... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Hematuria, Proteinuria, Acute kidney injury, Microangiopathic hemolytic anemia, Anemia, Thrombocy... OMIM:612926
Galactosemia I
Increased level of galactitol in urine, Aminoaciduria, Hemolytic anemia, Cataract, Galactosuria, ... OMIM:230400
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Membranoproliferative glomerulonephritis, Nephrotic syndrome, Hematuria, Proteinuria OMIM:613913
Roch-Leri Mesosomatous Lipomatosis
Purpura, Thrombocytopenia ORPHA:529
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Chronic kidney disease, Nephropathy, Focal segmental glomerulosclerosis, Renal cyst, Neutropenia,... OMIM:617056
Glutamate Formiminotransferase Deficiency
Megaloblastic anemia, Aminoaciduria, Hypersegmentation of neutrophil nuclei OMIM:229100
Idiopathic Non-Lupus Full-House Nephropathy
Nephrotic syndrome, Glomerular C3 deposition, Abnormal glomerular mesangium morphology, Acute kid... ORPHA:567544
Alpha-Thalassemia-Myelodysplastic Syndrome
Bruising susceptibility, Splenomegaly, Abnormal bleeding, Microcytic anemia, Neutropenia, HbH hem... ORPHA:231401
Autosomal Dominant Keratitis
Keratitis, Hypoplastic iris stroma, Corneal neovascularization, Opacification of the corneal stro... ORPHA:2334
Deafness, Autosomal Dominant 50
Sensorineural hearing impairment, Tinnitus, Progressive hearing impairment, Progressive sensorine... OMIM:613074
Thrombocytopenia 4
Thrombocytopenia, Abnormal platelet volume OMIM:612004
Factor V Deficiency
Bruising susceptibility, Abnormal bleeding, Menorrhagia, Epistaxis, Prolonged prothrombin time, P... OMIM:227400
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Quebec Platelet Disorder
Joint hemorrhage, Impaired epinephrine-induced platelet aggregation, Bruising susceptibility, Men... OMIM:601709
Amyloidosis, Familial Visceral
Nephrotic syndrome, Splenomegaly, Nephropathy, Hematuria, Proteinuria OMIM:105200
Cataract 20, Multiple Types
Membranous cataract, Cataract OMIM:116100
Acute Myelomonocytic Leukemia
Leukocytosis, Abnormal bleeding, Eosinophilia, Anemia, Thrombocytopenia ORPHA:517
Lipodystrophy, Partial, Acquired, Susceptibility To
Membranoproliferative glomerulonephritis, Nephrotic syndrome, Hematuria, Proteinuria OMIM:608709
Anemia, Sideroblastic, 5
Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia OMIM:619523
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Imerslund-Grasbeck Syndrome 1
Megaloblastic anemia, Microscopic hematuria, Proteinuria OMIM:261100
Deafness, Autosomal Dominant 2A
Tinnitus, Hearing impairment OMIM:600101
Deafness, Autosomal Dominant 58
Tinnitus, Hearing impairment OMIM:615654
Eosinophilia, Familial
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis OMIM:131400
Nathalie Syndrome
Sensorineural hearing impairment, Cataract, Arrhythmia ORPHA:2663
Non-Syndromic Genetic Deafness
Postlingual sensorineural hearing impairment, Conductive hearing impairment, High-frequency heari... ORPHA:87884
Cryofibrinogenemia, Familial Primary
Hematuria, Transient nephrotic syndrome OMIM:123540
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Abnormal antihelix morphology, Hearing impairment, Cataract OMIM:274205
Fibronectin Glomerulopathy
Nephrotic syndrome, Abnormal glomerular mesangium morphology, Renal insufficiency, Proteinuria, G... ORPHA:84090
Alport Syndrome
Glomerular C3 deposition, Hematuria, Posterior subcapsular cataract, Thickened glomerular basemen... ORPHA:63
Essential Thrombocythemia
Splenomegaly, Abnormal platelet morphology, Abnormality of thrombocytes, Acute leukemia, Prolonge... ORPHA:3318
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Sensorineural hearing impairment, Corneal opacity, Posterior embryotoxon, Hematuria, Optic atroph... ORPHA:1473
Lesch-Nyhan Syndrome
Renal insufficiency, Anemia, Hematuria ORPHA:510
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thrombocytopenia OMIM:615285
Congenital Primary Megaureter
Nephrolithiasis, Congenital megaureter, Abnormal penis morphology, Abnormality of the upper urina... ORPHA:617
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Hearing impairment, Cataract OMIM:300719
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia OMIM:618310
Hermansky-Pudlak Syndrome 5
Bruising susceptibility, Menorrhagia, Impaired ADP-induced platelet aggregation, Absent platelet ... OMIM:614074
Neutropenia, Severe Congenital, 9, Autosomal Dominant
3-Methylglutaconic aciduria, Cataract, Splenomegaly OMIM:619813
Anti-Glomerular Basement Membrane Disease
Hematuria, Renal insufficiency, Proteinuria, Glomerulopathy, Anemia ORPHA:375
Bilateral Striopallidodentate Calcinosis
Corneal opacity, Thrombocytopenia, Subcutaneous hemorrhage ORPHA:1980
Refractory Anemia
Anemia of inadequate production, Abnormal bleeding, Normocytic anemia, Erythroid hypoplasia, Macr... ORPHA:98826
3-Methylglutaconic Aciduria Type 4
Iris hypopigmentation, Cataract, 3-Methylglutaconic aciduria, Hearing impairment, Thrombocytopeni... ORPHA:67048
Mucoepithelial Dysplasia, Hereditary
Melena, Corneal neovascularization, Eosinophilia, Keratoconjunctivitis, Opacification of the corn... OMIM:158310
Angioma, Hereditary Neurocutaneous
Horner syndrome, Hematuria OMIM:106070
C3 Glomerulopathy
Chronic kidney disease, Nephrotic syndrome, Mesangial hypercellularity, Membranoproliferative glo... ORPHA:329918
Lecithin:Cholesterol Acyltransferase Deficiency
Opacification of the corneal stroma, Hemolytic anemia, Proteinuria, Renal insufficiency, Normochr... OMIM:245900
Vernal Keratoconjunctivitis
Corneal neovascularization, Abnormal conjunctiva morphology, Abnormal cornea morphology, Punctate... ORPHA:70476
Blue Rubber Bleb Nevus
Microcytic anemia, Intestinal bleeding, Prolonged bleeding time ORPHA:1059
Imerslund-Grasbeck Syndrome 2
Megaloblastic anemia, Proteinuria OMIM:618882
Erythroleukemia, Familial, Susceptibility To
Splenomegaly, Anemia, Thrombocytopenia, Leukemia, Acute myeloid leukemia, Erythroid hyperplasia OMIM:133180
Forsythe-Wakeling Syndrome
Low-set ears, Thrombocytopenia, Nephrotic syndrome, Macrotia OMIM:613606
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Hematuria OMIM:120433
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
Autoinflammation With Arthritis And Dyskeratosis
Splenomegaly, Corneal neovascularization, Uveitis, Punctate keratitis, Hypereosinophilia, Autoimm... OMIM:617388
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease OMIM:614455
Galloway-Mowat Syndrome 5
Nephrotic syndrome, Proteinuria, Hearing impairment, Stage 5 chronic kidney disease, Glomerular s... OMIM:617731
Alport Syndrome 3, Autosomal Dominant
Sensorineural hearing impairment, Nephrotic syndrome, Nephritis, Anterior polar cataract, Hematur... OMIM:104200
Limbal Stem Cell Deficiency
Keratitis, Corneal scarring, Generalized opacification of the cornea, Corneal perforation, Cornea... ORPHA:171673
Thrombocythemia 1
Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation... OMIM:187950
Moyamoya Disease With Early-Onset Achalasia
Abnormal platelet aggregation, Thrombocytopenia ORPHA:401945
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:614199
Leiomyomatosis, Diffuse, With Alport Syndrome
Abnormal renal physiology, Nephropathy, Hematuria, Thickened glomerular basement membrane, Lentic... OMIM:308940
Deafness And Myopia
Conductive hearing impairment, Profound hearing impairment, Hematuria, Proteinuria OMIM:221200
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Splenomegaly, Bruising susceptibility, Myeloproliferative disorder, Intracranial he... ORPHA:3226
Congenital Factor Ii Deficiency
Joint hemorrhage, Prolonged bleeding following circumcision, Abnormal umbilical stump bleeding, P... ORPHA:325
Hydroxyprolinemia
Microscopic hematuria OMIM:237000
Prothrombin Deficiency, Congenital
Joint hemorrhage, Bruising susceptibility, Menorrhagia, Gingival bleeding, Ecchymosis, Gastrointe... OMIM:613679
Hyperprolinemia Type 1
Prolinuria, Nephropathy, Proteinuria ORPHA:419
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Cataract 29
Cataract OMIM:115800
Cataract 18
Cataract OMIM:610019
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... OMIM:616648
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Transcobalamin Deficiency
Neutropenia, Lymphopenia, Methylmalonic aciduria, Acute kidney injury, Pancytopenia, Thrombocytop... ORPHA:859
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia OMIM:252270
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal tubular atrophy, Decreased glomerular filtration rate, Impaired renal uric acid clearance, ... OMIM:174000
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Anemia, Thrombocytopenia, Acute mye... OMIM:619041
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Glycosuria, Hematuria, Tubulointerstitial nephritis, Proteinuria, Stage 5 chron... OMIM:614817
Hermansky-Pudlak Syndrome 6
Bruising susceptibility, Abnormal bleeding, Impaired ADP-induced platelet aggregation, Ecchymosis... OMIM:614075
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Abnormal bleeding, Anisocytosis, Leukopenia, Erythroid hypoplasia, Macrocytic anemia, Thrombocyto... ORPHA:86841
Galloway-Mowat Syndrome 2, X-Linked
Nephrotic syndrome, Proteinuria, Glomerular sclerosis, Stage 5 chronic kidney disease, Minimal ch... OMIM:301006
Galloway-Mowat Syndrome 4
Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Macrotia, Stage 5 chronic kidney di... OMIM:617730
Medullary Sponge Kidney
Nephrolithiasis, Distal renal tubular acidosis, Hematuria, Hypercalciuria ORPHA:1309
Von Willebrand Disease, Type 1
Joint hemorrhage, Persistent bleeding after trauma, Bruising susceptibility, Prolonged bleeding a... OMIM:193400
Acquired Idiopathic Sideroblastic Anemia
Anemia of inadequate production, Granulocytopenia, Neutropenia, Leukocytosis, Splenomegaly, Hypoc... ORPHA:75564
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Heme Oxygenase 1 Deficiency
Coombs-positive hemolytic anemia, Nephritis, Hematuria, Hemolytic anemia, Thrombocytosis, Chemosi... OMIM:614034
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Frasier Syndrome
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:136680
Hemophilia B
Joint hemorrhage, Delayed onset bleeding, Prolonged bleeding after dental extraction, Intracrania... ORPHA:98879
Fanconi Anemia, Complementation Group G
Anemia, Thrombocytopenia, Leukemia, Neutropenia OMIM:614082
Spastic Paraplegia-Nephritis-Deafness Syndrome
Sensorineural hearing impairment, Nephropathy, Proteinuria ORPHA:2820
Thyrocerebrorenal Syndrome
Renal insufficiency, Sensorineural hearing impairment, Thrombocytopenia, Nephritis ORPHA:3327
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Sensorineural hearing impairment, Renal insufficiency, Proteinuria, Glomerulopathy, Anemia ORPHA:2668
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Anemia of inadequate production, Petechiae, Persistent bleeding after trauma, Bruising susceptibi... OMIM:300367
Spastic Paraparesis And Deafness
Hearing impairment, Cataract OMIM:312910
Nephrotic Syndrome, Type 14
Sensorineural hearing impairment, Nephrotic syndrome, Lymphopenia, Diffuse mesangial sclerosis, M... OMIM:617575
Nephrotic Syndrome, Type 15
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Minimal change glomerulonephritis OMIM:617609
Immune Thrombocytopenia
Petechiae, Cerebral hemorrhage, Bruising susceptibility, Gingival bleeding, Purpura, Gastrointest... ORPHA:3002
Hermansky-Pudlak Syndrome 9
Abnormal platelet aggregation, Leukopenia, Thrombocytopenia OMIM:614171
Bone Marrow Failure Syndrome 2
Anemia, Leukopenia, Thrombocytopenia OMIM:615715
Wolfram Syndrome, Mitochondrial Form
Sensorineural hearing impairment, Megaloblastic anemia, Sideroblastic anemia, Abnormal autonomic ... OMIM:598500
Bleeding Disorder, Platelet-Type, 21
Thrombocytopenia, Impaired platelet aggregation, Menorrhagia OMIM:617443
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Optic disc pallor, Hearing impairment, Cataract OMIM:165300
Coenzyme Q10 Deficiency, Primary, 3
Nephrotic syndrome, Proteinuria OMIM:614652
Phosphoglycerate Dehydrogenase Deficiency
Megaloblastic anemia, Thrombocytopenia, Developmental cataract, Hypsarrhythmia OMIM:601815
Xeroderma Pigmentosum, Complementation Group D
Keratitis, Sensorineural hearing impairment, Corneal neovascularization, Keratoconjunctivitis sic... OMIM:278730
Congenital Megacalycosis
Nephrolithiasis, Abnormal renal physiology, Recurrent urinary tract infections, Hematuria, Enlarg... ORPHA:93109
Rhabdoid Tumor
Anemia, Thrombocytopenia, Hematuria, Renal neoplasm ORPHA:69077
Nephrotic Syndrome, Type 11
Nephrotic syndrome, Renal tubular atrophy, Diffuse mesangial sclerosis, IgA deposition in the glo... OMIM:616730
Genetic Steroid-Resistant Nephrotic Syndrome
Chronic kidney disease, Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Proteinu... ORPHA:656
Wiskott-Aldrich Syndrome
Keratitis, Otitis media, Sudden cardiac death, Eczema, Hematochezia, Spontaneous hematomas, Prolo... ORPHA:906
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Cerebral hemorrhage, Increased red blood cell m... OMIM:263300
Galactosemia Ii
Cataract, Galactosuria OMIM:230200
Chronic Myeloid Leukemia
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo... ORPHA:521
Congenital Disorder Of Glycosylation, Type Iif
Aminoaciduria, Subcutaneous hemorrhage, Pulmonary hemorrhage, Proteinuria, Macrothrombocytopenia,... OMIM:603585
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Nephrotic syndrome, Continuous spike and waves during slow sleep, Hypospadias, EEG with occipital... OMIM:619428
Sea-Blue Histiocyte Disease
Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly OMIM:269600
Sengers Syndrome
Thrombocytopenia, 3-Methylglutaconic aciduria, Developmental cataract OMIM:212350
Dent Disease
Renal phosphate wasting, Nephrolithiasis, Chronic kidney disease, Aminoaciduria, Non-acidotic pro... ORPHA:1652
Coenzyme Q10 Deficiency, Primary, 1
Sensorineural hearing impairment, Recurrent myoglobinuria, Nephrotic syndrome, Focal segmental gl... OMIM:607426
Adenine Phosphoribosyltransferase Deficiency
Nephrolithiasis, Dysuria, Chronic kidney disease, Macroscopic hematuria, Recurrent urinary tract ... ORPHA:976
Atopic Keratoconjunctivitis
Keratitis, Blepharitis, Corneal opacity, Corneal neovascularization, Chemosis, Keratoconjunctivit... ORPHA:163934
Malaria
Anemia, Thrombocytopenia, Acute kidney injury ORPHA:673
Anterior Segment Dysgenesis 6
Corneal opacity, Abnormal Descemet membrane morphology, Corneal neovascularization, Developmental... OMIM:617315
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal platelet function, Abno... ORPHA:2585
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Sensorineural hearing impairment, Cataract, Developmental cataract OMIM:613076
Orotic Aciduria
Hypochromia, Oroticaciduria, Folate-unresponsive megaloblastic anemia, Anisocytosis, Hematuria, P... OMIM:258900
Idiopathic Aplastic Anemia
Retinal hemorrhage, Pancytopenia, Gingival bleeding, Ecchymosis, Neutropenia, Anemia, Thrombocyto... ORPHA:88
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal urine output, Diffuse mesangial sclerosis, Abnormal glomerular visceral epithelial cell ... ORPHA:567548
Adenine Phosphoribosyltransferase Deficiency
Nephrolithiasis, 2,8-dihydroxyadenine crystalluria, Urolithiasis, Hematuria, Oliguria, Renal insu... OMIM:614723
Bernard-Soulier Syndrome
Impaired ristocetin-induced platelet aggregation, Partially duplicated kidney, Petechiae, Hematem... ORPHA:274
Autosomal Dominant Polycystic Kidney Disease
Nephrolithiasis, Chronic kidney disease, Decreased glomerular filtration rate, Abnormal urinary e... ORPHA:730
Nephrotic Syndrome, Type 1
Congenital nephrotic syndrome, Renal tubular atrophy, Diffuse mesangial sclerosis, Renal insuffic... OMIM:256300
Hereditary Renal Hypouricemia
Chronic kidney disease, Decreased glomerular filtration rate, Abnormal renal physiology, Abnormal... ORPHA:94088
Neutrophilia, Hereditary
Hepatosplenomegaly, Neutrophilia OMIM:162830
Nephrotic Syndrome, Type 8
Sensorineural hearing impairment, Chronic kidney disease, Nephrotic syndrome, Diffuse mesangial s... OMIM:615244
Maternally-Inherited Diabetes And Deafness
Sensorineural hearing impairment, Arrhythmia, Cataract, Proteinuria, Renal insufficiency, Glomeru... ORPHA:225
Corneal Dystrophy, Groenouw Type I
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy OMIM:121900
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Abnormal motor ... ORPHA:320401
Cernunnos-Xlf Deficiency
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Anemia, Thrombocytopenia ORPHA:169079
Thrombotic Thrombocytopenic Purpura, Hereditary
Abnormal renal physiology, Schistocytosis, Proteinuria, Microangiopathic hemolytic anemia, Reticu... OMIM:274150
Deafness, Autosomal Dominant 64
Tinnitus, Sensorineural hearing impairment OMIM:614152
Deafness, Autosomal Dominant 67
Tinnitus, Sensorineural hearing impairment OMIM:616340
Deafness, Autosomal Dominant 36
Tinnitus, Sensorineural hearing impairment OMIM:606705
Deafness, Autosomal Dominant 72
Sensorineural hearing impairment, Tinnitus OMIM:617606
Deafness, Autosomal Dominant 82
Sensorineural hearing impairment, Tinnitus OMIM:619804
Deafness, Y-Linked 1
Tinnitus, Sensorineural hearing impairment OMIM:400043
Deafness, Autosomal Dominant 43
Tinnitus, Sensorineural hearing impairment OMIM:608394
Deafness, Autosomal Dominant 33
Tinnitus, Sensorineural hearing impairment OMIM:614211
Al Amyloidosis
Nephrotic syndrome, Abnormal P wave, Jaw claudication, Autonomic erectile dysfunction, Renal inte... ORPHA:85443
Alagille Syndrome 2
Renal tubular acidosis, Posterior embryotoxon, Hematuria, Renal cyst, Renal hypoplasia, Renal ins... OMIM:610205
Fanconi Anemia, Complementation Group T
Anemia, Thrombocytopenia, Pancytopenia OMIM:616435
Otosclerosis 7
Otosclerosis, Conductive hearing impairment, Progressive hearing impairment, Abnormality of the a... OMIM:611572
Aplasia Cutis Congenita
Prolonged bleeding time ORPHA:1114
Cyclic Neutropenia
Cyclic neutropenia, Neutropenia OMIM:162800
Deafness, Autosomal Dominant 16
Tinnitus, Adult onset sensorineural hearing impairment OMIM:603964
Combined Oxidative Phosphorylation Deficiency 14
EEG abnormality, Aminoaciduria, Anemia, Hearing impairment, Thrombocytopenia OMIM:614946
Platelet Aggregation, Spontaneous
Abnormal platelet function, Spontaneous platelet aggregation OMIM:173400
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Acute myelomonocytic leukemia, Pancytopenia, Neutropenia, Anemia, Thrombocyto... OMIM:159550
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Reduced renal corticomedullary differentiation, Renal cortical hyperechogenicity, Beta 2-microglo... OMIM:611555
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Skin rash, Neutropenia, Anemia, Thrombocytopenia, Conjunctivitis OMIM:603552
Schimke Immuno-Osseous Dysplasia
Corneal opacity, Lymphopenia, Nephrotic range proteinuria, Nephropathy, Abnormal proportion of na... ORPHA:1830
Kid Syndrome
Keratitis, Recurrent bacterial skin infections, Posterior blepharitis, Folliculitis, Recurrent cu... ORPHA:477
Schimke Immunoosseous Dysplasia
Nephrotic syndrome, Lymphopenia, Opacification of the corneal stroma, Thrombocytopenia, Pancytope... OMIM:242900
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Thrombocytopenia OMIM:614493
Fetal Parvovirus Syndrome
Anemia, Thrombocytopenia ORPHA:295
Fetal And Neonatal Alloimmune Thrombocytopenia
Melena, Petechiae, Neonatal alloimmune thrombocytopenia, Abnormal bleeding, Intracranial hemorrha... ORPHA:853
Erythrocyte Lactate Transporter Defect
Elevated circulating creatine kinase concentration OMIM:245340
Papillorenal Syndrome
Nephrolithiasis, Sensorineural hearing impairment, Chronic kidney disease, Absence of renal corti... OMIM:120330
Galloway-Mowat Syndrome 7
Nephrotic syndrome, Renal tubular atrophy, Diffuse mesangial sclerosis, IgA deposition in the glo... OMIM:618348
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Lymphopenia, Plasmacytosis, Glomerulonephritis OMIM:247800
Relapsing Fever
Neutrophilia, Leukocytosis, Leukopenia, Abnormality of the urinary system, Hematuria, Acute kidne... ORPHA:91547
Wiskott-Aldrich Syndrome, Autosomal Dominant
Sinusitis, Lymphopenia, Otitis media, Eczema, Nephropathy, Decreased mean platelet volume, Absent... OMIM:600903
Nathalie Syndrome
Hearing impairment, Abnormal EKG, Cataract OMIM:255990
Hermansky-Pudlak Syndrome 2
Enlarged platelet dense granules, Periodontitis, Ocular albinism, Chronic oral candidiasis, Recur... OMIM:608233
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Fava bean-induced hemolytic anemia, Cataract OMIM:618660
Aniridia 1
Corneal neovascularization, Ectopia pupillae, Optic nerve hypoplasia, Opacification of the cornea... OMIM:106210
Lcat Deficiency
Corneal opacity, Decreased glomerular filtration rate, Hemolytic anemia, Proteinuria, Acute kidne... ORPHA:650
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ... OMIM:202700
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Nephrolithiasis, Nephropathy, Hematuria ORPHA:2196
Thrombocytopenia 3
Thrombocytopenia, Epistaxis, Decreased mean platelet volume, Petechiae OMIM:273900
Preeclampsia
Chronic kidney disease, Abnormality of the kidney, Acute kidney injury, Proteinuria, Thrombocytop... ORPHA:275555
Thyrocerebroretinal Syndrome
Sensorineural hearing impairment, Thrombocytopenia, Nephritis OMIM:274240
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Chronic kidney disease, Macroscopic hematuria, Focal segmental glomerulosclerosis, Microscopic he... ORPHA:567546
Imerslund-Gräsbeck Syndrome
Megaloblastic anemia, Neutropenia, Abnormal bleeding, Anisopoikilocytosis, Macrocytic anemia, Thr... ORPHA:35858
Frasier Syndrome
Nephrotic syndrome, Nephroblastoma, Focal segmental glomerulosclerosis, Renal insufficiency, Prot... ORPHA:347
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities
Nephrotic syndrome, Renal insufficiency, Diffuse mesangial sclerosis OMIM:249660
Autoinflammatory-Pancytopenia Syndrome
Hemophagocytosis, Hepatosplenomegaly, Membranoproliferative glomerulonephritis, Proteinuria, Panc... OMIM:619858
Diffuse Alveolar Hemorrhage
Leukocytosis, Hematuria, Proteinuria, Anemia, Thrombocytopenia ORPHA:90060
Primary Hyperoxaluria Type 1
Nephrolithiasis, Dysuria, Decreased glomerular filtration rate, Recurrent urinary tract infection... ORPHA:93598
Primary Hyperoxaluria Type 3
Dysuria, Abnormal renal physiology, Calcium oxalate nephrolithiasis, Hematuria, Hyperoxaluria, Ab... ORPHA:93600
Palmoplantar Carcinoma, Multiple Self-Healing
Corneal neovascularization, Limbal stem cell deficiency OMIM:615225
Hereditary Xanthinuria
Crystalluria, Recurrent urinary tract infections, Xanthinuria, Hematuria, Acute kidney injury, Hy... ORPHA:3467
Galloway-Mowat Syndrome 6
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria OMIM:618347
Folate Malabsorption, Hereditary
Leukopenia, Thrombocytopenia, Folate-responsive megaloblastic anemia, Neutropenia OMIM:229050
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Megaloblastic anemia, Methylmalonic aciduria, Homocystinuria, Nephropathy, Hematuria, Macrotia, P... OMIM:277400
Isovaleric Acidemia
Hyperglycinuria, Cerebellar hemorrhage, Leukopenia, Pancytopenia, Thrombocytopenia OMIM:243500
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1