Hereditary neurocutaneous angiomata

MedGen UID:: 226898
•Concept ID:: C1275084
•: Neoplastic Process

Synonyms:	Angioma hereditary neurocutaneous; HEMANGIOMATOSIS, DISSEMINATED; SPINAL ARTERIAL VENOUS MALFORMATIONS WITH CUTANEOUS HEMANGIOMAS
SNOMED CT:	Hereditary neurocutaneous angiomata (403775003); Hereditary neurocutaneous vascular malformations (403775003)
Modes of inheritance:	Autosomal dominant inheritance MedGen UID: 141047 •Concept ID: C0443147 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Autosomal dominant inheritance (Orphanet)

Monarch Initiative:	MONDO:0007116
OMIM®:	106070
Orphanet:	ORPHA1062

Definition

A rare genetic vascular anomaly characterized by the presence of angiomatous lesions affecting the skin, brain, and spinal cord. Lesions of the central nervous system have a marked tendency to bleed. There have been no further descriptions in the literature since 1988. [from ORDO]

Clinical features

From HPO

Hemangioma

MedGen UID:: 5477
•Concept ID:: C0018916
•: Neoplastic Process

A hemangioma is a benign tumor characterized by blood-filled spaces lined by benign endothelial cells. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma (in contrast to a hemangioma with small endothelial spaces, which is called capillary hemangioma).

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Hematuria

MedGen UID:: 5488
•Concept ID:: C0018965
•: Disease or Syndrome

The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine).

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Gastrointestinal hemorrhage

MedGen UID:: 8971
•Concept ID:: C0017181
•: Pathologic Function

Hemorrhage affecting the gastrointestinal tract.

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Hemiparesis

MedGen UID:: 6783
•Concept ID:: C0018989
•: Finding

Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a complete loss of strength, whereas hemiparesis refers to an incomplete loss of strength.

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Horner syndrome

MedGen UID:: 5616
•Concept ID:: C0019937
•: Disease or Syndrome

An abnormality resulting from a lesion of the sympathetic nervous system characterized by a combination of unilateral ptosis, miosis, and often ipsilateral hypohidrosis and conjunctival injection.

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