Macules Hereditary Congenital Hypopigmented and Hyperpigmented

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UMLS 71 C1835172

GARD : ²⁰ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2435DefinitionHypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome is a rare, genetic pigmentation anomaly of the skin disorder characterized by congenital hypomelanotic and hypermelanotic cutaneous macules associated with, in some patients, retarded growth and intellectual disability. There have been no further descriptions in the literature since 1978.Visit the Orphanet disease page for more resources.

MalaCards based summary : Macules Hereditary Congenital Hypopigmented and Hyperpigmented, also known as congenital hypomelanotic and hypermelanotic macules, is related to hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome and hyperpigmentation with or without hypopigmentation, familial progressive, and has symptoms including macule An important gene associated with Macules Hereditary Congenital Hypopigmented and Hyperpigmented is KITLG (KIT Ligand).

Search Clinical Trials , NIH Clinical Center for Macules Hereditary Congenital Hypopigmented and Hyperpigmented

Search GEO for disease gene expression data for Macules Hereditary Congenital Hypopigmented and Hyperpigmented.