Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps

Preferred Label : Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps;

Symbol : HANAC;

CISMeF acronym : HANAC;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the collagen IV, alpha-1 polypeptide gene (COL4A1, 120130.0007);

Laboratory abnormalities : Creatine kinase, serum, elevated; Glomerular filtration rate, decreased;

Prefixed ID : #611773;

Details

Origin ID

611773;

UMLS CUI

C2673195;

Currated CISMeF NLP mapping
- HANAC syndrome [Disease (Nov.)]
- HANAC syndrome [ORDO Disease]
- Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome (disorder) [SNOMED CT concept]
- angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps [MeSH concept]
- angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps [MeSH Supplementary Concept]
Genes related to phenotype
- Collagen, type iv, alpha-1 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Dilatation of the cerebral artery [HPO term]
- Hematuria [HPO term]
- Leukoencephalopathy [HPO term]
- Muscle spasm [HPO term]
- Nephropathy [HPO term]
- Raynaud phenomenon [HPO term]
- Renal cyst [HPO term]
- Renal insufficiency [HPO term]
- Retinal arteriolar tortuosity [HPO term]
- Retinal hemorrhage [HPO term]
- Stroke [HPO term]
- Supraventricular arrhythmia [HPO term]
- Vascular dilatation [HPO term]
ORDO concept(s)
- HANAC syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- HANAC syndrome [ORDO Disease]
- HANAC syndrome [Disease (Nov.)]
- Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome (disorder) [SNOMED CT concept]
- angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps [MeSH Supplementary Concept]
- angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps [MeSH concept]

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