MCID: MCR139
MIFTS: 20

Macrothrombocytopenia and Progressive Sensorineural Deafness

Categories: Genetic diseases, Blood diseases, Ear diseases

Aliases & Classifications for Macrothrombocytopenia and Progressive Sensorineural Deafness

MalaCards integrated aliases for Macrothrombocytopenia and Progressive Sensorineural Deafness:

Name: Macrothrombocytopenia and Progressive Sensorineural Deafness 53 71 28 13
Mpsd 71

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
onset of hearing loss in late childhood


HPO:

31
macrothrombocytopenia and progressive sensorineural deafness:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Macrothrombocytopenia and Progressive Sensorineural Deafness

UniProtKB/Swiss-Prot : 71 Macrothrombocytopenia and progressive sensorineural deafness: An autosomal dominant disorder characterized by the association of macrothrombocytopathy and progressive sensorineural hearing loss without renal dysfunction.

MalaCards based summary : Macrothrombocytopenia and Progressive Sensorineural Deafness, also known as mpsd, is related to macrothrombocytopenia progressive deafness and fechtner syndrome, and has symptoms including abnormality of the eye, bruising susceptibility and prolonged bleeding time. An important gene associated with Macrothrombocytopenia and Progressive Sensorineural Deafness is MYH9 (Myosin Heavy Chain 9). Affiliated tissues include kidney and eye.

Description from OMIM: 600208

Related Diseases for Macrothrombocytopenia and Progressive Sensorineural Deafness

Diseases related to Macrothrombocytopenia and Progressive Sensorineural Deafness via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 macrothrombocytopenia progressive deafness 11.3
2 fechtner syndrome 11.1
3 epstein syndrome 11.1
4 sebastian syndrome 11.1

Symptoms & Phenotypes for Macrothrombocytopenia and Progressive Sensorineural Deafness

Symptoms via clinical synopsis from OMIM:

53
HeadAndNeckEars:
hearing loss, progressive sensorineural

GenitourinaryKidneys:
no kidney disease

LaboratoryAbnormalities:
thrombocytopenia (33-120 x 10(9)/l)
normal to prolonged bleeding time

HeadAndNeckEyes:
no cataracts

Hematology:
thrombocytopenia
giant platelets
no leukocyte inclusions on giemsa staining
myh9-positive inclusions on immunohistochemical staining
variable bleeding episodes
more

Clinical features from OMIM:

600208

Human phenotypes related to Macrothrombocytopenia and Progressive Sensorineural Deafness:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 abnormality of the eye 31 HP:0000478
2 bruising susceptibility 31 HP:0000978
3 prolonged bleeding time 31 HP:0003010
4 abnormality of the urinary system 31 HP:0000079
5 progressive sensorineural hearing impairment 31 HP:0000408
6 giant platelets 31 HP:0001902
7 macrothrombocytopenia 31 HP:0040185

Drugs & Therapeutics for Macrothrombocytopenia and Progressive Sensorineural Deafness

Search Clinical Trials , NIH Clinical Center for Macrothrombocytopenia and Progressive Sensorineural Deafness

Genetic Tests for Macrothrombocytopenia and Progressive Sensorineural Deafness

Genetic tests related to Macrothrombocytopenia and Progressive Sensorineural Deafness:

# Genetic test Affiliating Genes
1 Macrothrombocytopenia and Progressive Sensorineural Deafness 28 MYH9

Anatomical Context for Macrothrombocytopenia and Progressive Sensorineural Deafness

MalaCards organs/tissues related to Macrothrombocytopenia and Progressive Sensorineural Deafness:

38
Kidney, Eye

Publications for Macrothrombocytopenia and Progressive Sensorineural Deafness

Variations for Macrothrombocytopenia and Progressive Sensorineural Deafness

UniProtKB/Swiss-Prot genetic disease variations for Macrothrombocytopenia and Progressive Sensorineural Deafness:

71
# Symbol AA change Variation ID SNP ID
1 MYH9 p.Asp1424Asn VAR_018316 rs80338831

ClinVar genetic disease variations for Macrothrombocytopenia and Progressive Sensorineural Deafness:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MYH9 NM_002473.5(MYH9): c.4270G> A (p.Asp1424Asn) single nucleotide variant Pathogenic rs80338831 GRCh37 Chromosome 22, 36688106: 36688106
2 MYH9 MYH9, 18-BP DEL, NT228 deletion Pathogenic

Expression for Macrothrombocytopenia and Progressive Sensorineural Deafness

Search GEO for disease gene expression data for Macrothrombocytopenia and Progressive Sensorineural Deafness.

Pathways for Macrothrombocytopenia and Progressive Sensorineural Deafness

GO Terms for Macrothrombocytopenia and Progressive Sensorineural Deafness

Sources for Macrothrombocytopenia and Progressive Sensorineural Deafness

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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