ODCs

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Familial isolated restrictive cardiomyopathy

4 OMIM references -
3 associated genes
No signs/symptoms info

PROTEIN INTERACTIONS: 1

ChÃ©diak-Higashi syndrome

1 OMIM reference -
1 associated gene
40 signs/symptoms

Familial isolated restrictive cardiomyopathy

ChÃ©diak-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		ChÃ©diak-Higashi syndrome
	Synonym(s): - Familial or idiopathic restrictive cardiomyopathy		Synonym(s): - ChÃ©diak-Higashi disease - ChÃ©diak-Higashi-Steinbrink syndrome

	Classification (Orphanet): - Rare cardiac disease - Rare genetic disease		Classification (Orphanet): - Inborn errors of metabolism - Rare eye disease - Rare genetic disease - Rare hematologic disease - Rare immune disease - Rare neurologic disease - Rare skin 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: unknown Average age onset: childhood Average age of death: - Type of inheritance: autosomal recessive

	External references: 4 OMIM references - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: D002609

ChÃ©diak-Higashi syndrome
	Very frequent - Albinism (hair) - Alveolysis / paraodontitis - Anaemia - Areflexia / hyporeflexia - Autosomal recessive inheritance - Bone marrow / medullar infiltration - Bruisability - Chronic skin infection / ulcerations / ulcers / cancrum - Decreased hair pigmentation / hypopigmentation of hair - Diffuse / generalised skin hypopigmentation / cutaneous albinism - Fever / chilling - Furuncle / cutaneous abscess / hidrosadenitis suppurativa - Gingivorrhagia / gingival bleeding - Hepatomegaly / liver enlargement (excluding storage disease) - Immunodeficiency / increased susceptibility to infections / recurrent infections - Intellectual deficit / mental / psychomotor retardation / learning disability - Iris albinism / ocular albinism - Lymphadenopathy / polyadenopathies - Paresthesia / dysesthesia / hypoesthesia / anesthesia / numbness - Peripheral neuropathy - Polynuclear cells / neutrophils anomalies / neutropenia - Repeat respiratory infections - Splenomegaly - Thrombocytopenia / thrombopenia Frequent - Ecchymoses - Epistaxis / nose bleeding - Nystagmus - Photophobia - Tremor - Visual loss / blindness / amblyopia Occasional - Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia - Diffuse / generalised skin hyperpigmentation / melanoderma - Early death / lethality - Execution movement disorder / dysmetria / bradykinesia / akinesia / apraxia - Extrapyramidal syndrome - Gastrointestinal bleeding / hemorrhage / hematemesis / melena / rectorrhagia - Hepatitis / icterus / cholestasis - Hypertonia / spasticity / rigidity / stiffness - Movement disorder - Psychic / psychomotor regression / dementia / intellectual decline
Familial isolated restrictive cardiomyopathy
(no data available)