FPHH
MCID: HYP744
MIFTS: 28

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 56 73
Fphh 56 12 58 73
Familial Progressive Hyperpigmentation with or Without Hypopigmentation 12 29 6
Melanosis Universalis Hereditaria 56 12 73
Muh 56 12 73
Hyperpigmentation, Familial Progressive, 2, Formerly; Fph2, Formerly 56
Hyperpigmentation, Familial Progressive, 2, Formerly 56
Hyperpigmentation with or Without Hypopigmentation 56
Familial Progressive Hyper- and Hypopigmentation 58
Hyperpigmentation, Familial Progressive 71
Melanosis Universalis Hereditaria; Muh 56
Fph2, Formerly 56

Characteristics:

Orphanet epidemiological data:

58
familial progressive hyper- and hypopigmentation
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal dominant

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


HPO:

31
hyperpigmentation with or without hypopigmentation, familial progressive:
Inheritance autosomal dominant inheritance
Onset and clinical course infantile onset


Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

Disease Ontology 12 DOID:0111373
OMIM 56 145250
ICD10 via Orphanet 33 L81.8
UMLS via Orphanet 72 C1840392
Orphanet 58 ORPHA280628
MedGen 41 C1840392
UMLS 71 C1840392 CN030522

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

OMIM : 56 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 cafe-au-lait spot

Disease Ontology : 12 A skin disease characterized by progressive, diffuse hyperpigmentation of variable intensity sometimes associated with cafe-au-lait macules and larger hypopigmented ash-leaf macules that has material basis in heterozygous mutation in KITLG on chromosome 12q21.32.

UniProtKB/Swiss-Prot : 73 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:

(show all 14)
# Related Disease Score Top Affiliating Genes
1 familial progressive hyperpigmentation 11.7
2 hyperpigmentation, familial progressive, 1 11.3
3 sickle cell anemia 11.2
4 deficiency anemia 11.2
5 neisseria meningitidis infection 11.2
6 lentigines 10.1
7 dowling-degos disease 1 10.1
8 legius syndrome 10.1
9 dyschromatosis universalis hereditaria 2 10.1
10 dyschromatosis universalis hereditaria 10.1
11 pigmentation disease 10.1
12 erythrokeratoderma ''en cocardes'' 10.1
13 rare genetic skin disease 10.1
14 thyroid carcinoma 10.1

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:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 vitiligo 31 occasional (7.5%) HP:0001045
2 cafe-au-lait spot 31 HP:0000957
3 hyperkeratosis 31 HP:0000962
4 hypopigmented skin patches 31 HP:0001053
5 multiple lentigines 31 HP:0001003
6 progressive hyperpigmentation 31 HP:0007505

Symptoms via clinical synopsis from OMIM:

56
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 29 KITLG

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

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

40
Skin

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

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

(show all 12)
# Title Authors PMID Year
1
KITLG mutations cause familial progressive hyper- and hypopigmentation. 61 6 56
21368769 2011
2
Gain-of-function mutation of KIT ligand on melanin synthesis causes familial progressive hyperpigmentation. 56 6
19375057 2009
3
Familial hyper- and hypopigmentation with age-related pattern change. 6 56
15551335 2005
4
Progressive hyperpigmentation and generalized lentiginosis without associated systemic symptoms: a rare hereditary pigmentation disorder in south-east Germany. 56 6
15040480 2004
5
Universal inherited melanodyschromatosis: a case of melanosis universalis hereditaria? 56
2802660 1989
6
Hereditary congenital hypopigmented and hyperpigmented macules. 56
666331 1978
7
Familial progressive hyperpigmentation. 56
4326548 1971
8
Diffuse pigmentation in brothers. 56
14371572 1955
9
Electrochemical Mechanism and Effect of Carbon Nanotubes on the Electrochemical Performance of Fe1.19(PO4)(OH)0.57(H2O)0.43 Cathode Material for Li-Ion Batteries. 61
30216721 2018
10
Familial progressive hyper- and hypopigmentation: a report on a Chinese family and evidence for genetic heterogeneity. 61
29186243 2017
11
Familial progressive hyper- and hypopigmentation and malignancy in two families with new mutations in KITLG. 61
26179221 2015
12
Familial progressive hypo- and hyperpigmentation: a variant case. 61
22565436 2012

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

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

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

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

73
# Symbol AA change Variation ID SNP ID
1 KITLG p.Asn36Ser VAR_063237 rs121918653

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
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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