MCID: HYP744
MIFTS: 24

Hyperpigmentation with or Without Hypopigmentation, Familial Progressive

Categories: Genetic diseases, Skin diseases, Rare diseases

Aliases & Classifications for Hyperpigmentation with or Without Hypopigmentation, Familial...

MalaCards integrated aliases for Hyperpigmentation with or Without Hypopigmentation, Familial Progressive:

Name: Hyperpigmentation with or Without Hypopigmentation, Familial Progressive 57 75
Fphh 57 59 75
Familial Progressive Hyperpigmentation with or Without Hypopigmentation 29 6
Melanosis Universalis Hereditaria 57 75
Muh 57 75
Hyperpigmentation, Familial Progressive, 2, Formerly; Fph2, Formerly 57
Hyperpigmentation, Familial Progressive, 2, Formerly 57
Hyperpigmentation with or Without Hypopigmentation 57
Familial Progressive Hyper- and Hypopigmentation 59
Hyperpigmentation, Familial Progressive 73
Melanosis Universalis Hereditaria; Muh 57
Fph2, Formerly 57

Characteristics:

Orphanet epidemiological data:

59
familial progressive hyper- and hypopigmentation
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset birth to early infancy
hyperpigmented patches increased in size and number with age


HPO:

32
hyperpigmentation with or without hypopigmentation, familial progressive:
Inheritance autosomal dominant inheritance
Onset and clinical course infantile onset


Classifications:

Orphanet: 59  
Rare skin diseases


External Ids:

OMIM 57 145250
Orphanet 59 ORPHA280628
UMLS via Orphanet 74 C1840392
ICD10 via Orphanet 34 L81.8
MedGen 42 C1840392
UMLS 73 C1840392

Summaries for Hyperpigmentation with or Without Hypopigmentation, Familial...

OMIM : 57 Familial progressive hyperpigmentation with or without hypopigmentation (FPHH) is characterized by diffuse hyperpigmentation of variable intensity sometimes associated with cafe-au-lait macules and larger hypopigmented ash-leaf macules. These features, which involve the face, neck, trunk, and limbs, are seen at birth or develop early in infancy (summary by Wang et al., 2009 and Amyere et al., 2011). Also see familial progressive hyperpigmentation (FPH1; 614233). (145250)

MalaCards based summary : Hyperpigmentation with or Without Hypopigmentation, Familial Progressive, also known as fphh, is related to familial progressive hyperpigmentation and hyperpigmentation, familial progressive, 1. An important gene associated with Hyperpigmentation with or Without Hypopigmentation, Familial Progressive is KITLG (KIT Ligand). Affiliated tissues include skin, and related phenotypes are cafe-au-lait spot and hyperkeratosis

UniProtKB/Swiss-Prot : 75 Hyperpigmentation with or without hypopigmentation, familial progressive: A disorder characterized by hyperpigmented patches in the skin, present in early infancy and increasing in size and number with age. Hyperpigmentation has variable intensity, and sometimes is associated with cafe-au-lait macules and larger hypopigmented ash-leaf macules.

Related Diseases for Hyperpigmentation with or Without Hypopigmentation, Familial...

Diseases related to Hyperpigmentation with or Without Hypopigmentation, Familial Progressive via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 familial progressive hyperpigmentation 11.3
2 hyperpigmentation, familial progressive, 1 10.9
3 sickle cell anemia 10.9
4 deficiency anemia 10.9
5 neisseria meningitidis infection 10.9

Graphical network of the top 20 diseases related to Hyperpigmentation with or Without Hypopigmentation, Familial Progressive:



Diseases related to Hyperpigmentation with or Without Hypopigmentation, Familial Progressive

Symptoms & Phenotypes for Hyperpigmentation with or Without Hypopigmentation, Familial...

Symptoms via clinical synopsis from OMIM:

57
Skin Nails Hair Skin:
familial progressive hyperpigmentation and hypopigmentation
hyperpigmented skin patches (face, neck, trunk, limbs, lip, oral mucosa, palms, and soles)
hypopigmented skin patches
cafe-au-lait spots
lentiginosis, generalized (in some patients)
more
Skin Nails Hair Skin Histology:
hyperkeratosis with increased melanin in epidermis, especially basal cell layer and tips of rete ridges


Clinical features from OMIM:

145250

Human phenotypes related to Hyperpigmentation with or Without Hypopigmentation, Familial Progressive:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 cafe-au-lait spot 32 HP:0000957
2 hyperkeratosis 32 HP:0000962
3 multiple lentigines 32 HP:0001003
4 vitiligo 32 occasional (7.5%) HP:0001045
5 hypopigmented skin patches 32 HP:0001053
6 progressive hyperpigmentation 32 HP:0007505

Drugs & Therapeutics for Hyperpigmentation with or Without Hypopigmentation, Familial...

Search Clinical Trials , NIH Clinical Center for Hyperpigmentation with or Without Hypopigmentation, Familial Progressive

Genetic Tests for Hyperpigmentation with or Without Hypopigmentation, Familial...

Genetic tests related to Hyperpigmentation with or Without Hypopigmentation, Familial Progressive:

# Genetic test Affiliating Genes
1 Familial Progressive Hyperpigmentation with or Without Hypopigmentation 29 KITLG

Anatomical Context for Hyperpigmentation with or Without Hypopigmentation, Familial...

MalaCards organs/tissues related to Hyperpigmentation with or Without Hypopigmentation, Familial Progressive:

41
Skin

Publications for Hyperpigmentation with or Without Hypopigmentation, Familial...

Articles related to Hyperpigmentation with or Without Hypopigmentation, Familial Progressive:

# Title Authors Year
1
Familial progressive hyper- and hypopigmentation and malignancy in two families with new mutations in KITLG. ( 26179221 )
2015
2
KITLG mutations cause familial progressive hyper- and hypopigmentation. ( 21368769 )
2011

Variations for Hyperpigmentation with or Without Hypopigmentation, Familial...

UniProtKB/Swiss-Prot genetic disease variations for Hyperpigmentation with or Without Hypopigmentation, Familial Progressive:

75
# Symbol AA change Variation ID SNP ID
1 KITLG p.Asn36Ser VAR_063237 rs121918653

ClinVar genetic disease variations for Hyperpigmentation with or Without Hypopigmentation, Familial Progressive:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 KITLG NM_000899.4(KITLG): c.107A> G (p.Asn36Ser) single nucleotide variant Pathogenic rs121918653 GRCh37 Chromosome 12, 88939551: 88939551
2 KITLG NM_000899.4(KITLG): c.107A> G (p.Asn36Ser) single nucleotide variant Pathogenic rs121918653 GRCh38 Chromosome 12, 88545774: 88545774
3 KITLG NM_000899.4(KITLG): c.98T> C (p.Val33Ala) single nucleotide variant Pathogenic rs730882156 GRCh37 Chromosome 12, 88939560: 88939560
4 KITLG NM_000899.4(KITLG): c.98T> C (p.Val33Ala) single nucleotide variant Pathogenic rs730882156 GRCh38 Chromosome 12, 88545783: 88545783
5 KITLG NM_000899.4(KITLG): c.100A> C (p.Thr34Pro) single nucleotide variant Pathogenic rs730882157 GRCh37 Chromosome 12, 88939558: 88939558
6 KITLG NM_000899.4(KITLG): c.100A> C (p.Thr34Pro) single nucleotide variant Pathogenic rs730882157 GRCh38 Chromosome 12, 88545781: 88545781

Expression for Hyperpigmentation with or Without Hypopigmentation, Familial...

Search GEO for disease gene expression data for Hyperpigmentation with or Without Hypopigmentation, Familial Progressive.

Pathways for Hyperpigmentation with or Without Hypopigmentation, Familial...

GO Terms for Hyperpigmentation with or Without Hypopigmentation, Familial...

Sources for Hyperpigmentation with or Without Hypopigmentation, Familial...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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