MCID: MCL020
MIFTS: 12

Macules Hereditary Congenital Hypopigmented and Hyperpigmented

Categories: Rare diseases

Aliases & Classifications for Macules Hereditary Congenital Hypopigmented and Hyperpigmented

MalaCards integrated aliases for Macules Hereditary Congenital Hypopigmented and Hyperpigmented:

Name: Macules Hereditary Congenital Hypopigmented and Hyperpigmented 20 71
Congenital Hypomelanotic and Hypermelanotic Macules 20 6
Hereditary Congenital Hypopigmented and Hyperpigmented Macules 20
Westerhof Beemer Cormane Syndrome 20

Classifications:



External Ids:

UMLS 71 C1835172

Summaries for Macules Hereditary Congenital Hypopigmented and Hyperpigmented

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).

Related Diseases for Macules Hereditary Congenital Hypopigmented and Hyperpigmented

Diseases related to Macules Hereditary Congenital Hypopigmented and Hyperpigmented via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome 11.6
2 hyperpigmentation with or without hypopigmentation, familial progressive 10.3
3 tuberous sclerosis 10.3

Symptoms & Phenotypes for Macules Hereditary Congenital Hypopigmented and Hyperpigmented

UMLS symptoms related to Macules Hereditary Congenital Hypopigmented and Hyperpigmented:


macule

Drugs & Therapeutics for Macules Hereditary Congenital Hypopigmented and Hyperpigmented

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

Genetic Tests for Macules Hereditary Congenital Hypopigmented and Hyperpigmented

Anatomical Context for Macules Hereditary Congenital Hypopigmented and Hyperpigmented

Publications for Macules Hereditary Congenital Hypopigmented and Hyperpigmented

Articles related to Macules Hereditary Congenital Hypopigmented and Hyperpigmented:

# Title Authors PMID Year
1
KITLG mutations cause familial progressive hyper- and hypopigmentation. 6
21368769 2011
2
Gain-of-function mutation of KIT ligand on melanin synthesis causes familial progressive hyperpigmentation. 6
19375057 2009
3
Familial hyper- and hypopigmentation with age-related pattern change. 6
15551335 2005
4
Progressive hyperpigmentation and generalized lentiginosis without associated systemic symptoms: a rare hereditary pigmentation disorder in south-east Germany. 6
15040480 2004
5
Hereditary congenital hypopigmented and hyperpigmented macules. 61
666331 1978

Variations for Macules Hereditary Congenital Hypopigmented and Hyperpigmented

ClinVar genetic disease variations for Macules Hereditary Congenital Hypopigmented and Hyperpigmented:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KITLG NM_000899.5(KITLG):c.107A>G (p.Asn36Ser) SNV Pathogenic 12813 rs121918653 12:88939551-88939551 12:88545774-88545774
2 KITLG NM_000899.5(KITLG):c.98T>C (p.Val33Ala) SNV Pathogenic 183168 rs730882156 12:88939560-88939560 12:88545783-88545783
3 KITLG NM_000899.5(KITLG):c.100A>C (p.Thr34Pro) SNV Pathogenic 183169 rs730882157 12:88939558-88939558 12:88545781-88545781

Expression for Macules Hereditary Congenital Hypopigmented and Hyperpigmented

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

Pathways for Macules Hereditary Congenital Hypopigmented and Hyperpigmented

GO Terms for Macules Hereditary Congenital Hypopigmented and Hyperpigmented

Sources for Macules Hereditary Congenital Hypopigmented and Hyperpigmented

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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