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Familial isolated restrictive cardiomyopathy
4 OMIM references -
3 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Attenuated Chédiak-Higashi syndrome
1 associated gene
16 signs/symptoms
Familial isolated restrictive cardiomyopathy
Attenuated Chédiak-Higashi syndrome

MYPN
(UniProt - OMIM)
 LYST
(UniProt - OMIM)
TNNI3
(UniProt - OMIM)
TNNT2
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
TNNI3
(0.63)
LYST


Citations in the biomedical literature:


Familial isolated restrictive cardiomyopathy
MYPN TNNI3 TNNT2
Attenuated Chédiak-Higashi syndrome
LYST



Familial isolated restrictive cardiomyopathy
Attenuated Chédiak-Higashi syndrome

Synonym(s):
- Familial or idiopathic restrictive cardiomyopathy
Synonym(s):
- Atypical Chédiak-Higashi syndrome
Classification (Orphanet):
- Rare cardiac disease
- Rare genetic disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the circulatory system -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: variable
Average age of death: any age
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal recessive
External references:
4 OMIM references -
No MeSH references
External references:
No OMIM references
No MeSH references
Attenuated Chédiak-Higashi syndrome

Very frequent
- Autosomal recessive inheritance
- Bruisability
- Chronic skin infection / ulcerations / ulcers / cancrum
- Diffuse / generalised skin hypopigmentation / cutaneous albinism
- Epistaxis / nose bleeding
- Gingivorrhagia / gingival bleeding
- Hemorrhage / hemorrhagic syndrome / excessive / long-lasting bleeding
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Iris albinism / ocular albinism
- Peripheral neuropathy
- Repeat respiratory infections

Occasional
- Ataxia / incoordination / trouble of the equilibrium
- Execution movement disorder / dysmetria / bradykinesia / akinesia / apraxia
- Extrapyramidal syndrome
- Hypertonia / spasticity / rigidity / stiffness


Familial isolated restrictive cardiomyopathy

(no data available)