FPHH
MCID: HYP744
MIFTS: 25

Hyperpigmentation with or Without Hypopigmentation, Familial Progressive (FPHH)

Categories: Genetic diseases, Rare diseases, Skin 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 58 76
Fphh 58 60 76
Familial Progressive Hyperpigmentation with or Without Hypopigmentation 30 6
Melanosis Universalis Hereditaria 58 76
Muh 58 76
Hyperpigmentation, Familial Progressive, 2, Formerly; Fph2, Formerly 58
Hyperpigmentation, Familial Progressive, 2, Formerly 58
Hyperpigmentation with or Without Hypopigmentation 58
Familial Progressive Hyper- and Hypopigmentation 60
Hyperpigmentation, Familial Progressive 74
Melanosis Universalis Hereditaria; Muh 58
Fph2, Formerly 58

Characteristics:

Orphanet epidemiological data:

60
familial progressive hyper- and hypopigmentation
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
hyperpigmentation with or without hypopigmentation, familial progressive:
Onset and clinical course infantile onset
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare skin diseases


External Ids:

OMIM 58 145250
ICD10 via Orphanet 35 L81.8
UMLS via Orphanet 75 C1840392
Orphanet 60 ORPHA280628
MedGen 43 C1840392
UMLS 74 C1840392

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

OMIM : 58 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 vitiligo and hyperkeratosis

UniProtKB/Swiss-Prot : 76 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 31.8 HPP1 KITLG
2 hyperpigmentation, familial progressive, 1 11.1
3 sickle cell anemia 11.1
4 deficiency anemia 11.1
5 neisseria meningitidis infection 11.1

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...

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

33 (show all 6)
# Description HPO Frequency HPO Source Accession
1 vitiligo 33 occasional (7.5%) HP:0001045
2 hyperkeratosis 33 HP:0000962
3 hypopigmented skin patches 33 HP:0001053
4 multiple lentigines 33 HP:0001003
5 cafe-au-lait spot 33 HP:0000957
6 progressive hyperpigmentation 33 HP:0007505

Symptoms via clinical synopsis from OMIM:

58
Skin Nails Hair Skin:
hypopigmented skin patches
cafe-au-lait spots
familial progressive hyperpigmentation and hypopigmentation
hyperpigmented skin patches (face, neck, trunk, limbs, lip, oral mucosa, palms, and soles)
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

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 30 KITLG

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

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

42
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
3
Gain-of-function mutation of KIT ligand on melanin synthesis causes familial progressive hyperpigmentation. ( 19375057 )
2009
4
Familial hyper- and hypopigmentation with age-related pattern change. ( 15551335 )
2005
5
Progressive hyperpigmentation and generalized lentiginosis without associated systemic symptoms: a rare hereditary pigmentation disorder in south-east Germany. ( 15040480 )
2004

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

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

76
# 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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