FPHH
MCID: HYP744
MIFTS: 39

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 57 73
Familial Progressive Hyperpigmentation with or Without Hypopigmentation 12 29 6 15
Fphh 57 12 58 73
Melanosis Universalis Hereditaria 57 12 73
Muh 57 12 73
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 58
Hyperpigmentation, Familial Progressive 71
Melanosis Universalis Hereditaria; Muh 57
Fph2, Formerly 57

Characteristics:

Orphanet epidemiological data:

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

OMIM®:

57 (Updated 05-Mar-2021)
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® 57 145250
ICD10 via Orphanet 33 L81.8
UMLS via Orphanet 72 C1840392
Orphanet 58 ORPHA280628
MedGen 41 C1840392
UMLS 71 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) (Updated 05-Mar-2021)

MalaCards based summary : Hyperpigmentation with or Without Hypopigmentation, Familial Progressive, also known as familial progressive hyperpigmentation with or without hypopigmentation, 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), and among its related pathways/superpathways are Fc-GammaR Pathway and Antigen activates B Cell Receptor (BCR) leading to generation of second messengers. Related phenotypes are vitiligo and hyperkeratosis

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 top 50) (show all 61)
# Related Disease Score Top Affiliating Genes
1 familial progressive hyperpigmentation 11.4
2 hyperpigmentation, familial progressive, 1 10.9
3 sickle cell anemia 10.9
4 deficiency anemia 10.9
5 neisseria meningitidis infection 10.9
6 mu chain disease 10.4 VPREB1 IGLL1
7 congenital hypogammaglobulinemia 10.3 IGLL1 BLNK
8 bird fancier's lung 10.3 IGLL1 CD79A
9 retina lymphoma 10.3 IGLL5 IGHV4-38-2
10 lentigines 10.3
11 monoclonal paraproteinemia 10.3 IGHV4-38-2 CD79A
12 solitary osseous plasmacytoma 10.3 IGLL5 CD79A
13 pediatric lymphoma 10.3 IGHV4-38-2 CD79A
14 bladder lymphoma 10.2 SPN CD79A
15 lung lymphoma 10.2 SPN CD79A
16 infected hydrocele 10.2 SPN CD79A
17 bone lymphoma 10.2 SPN CD79A
18 chronic dacryoadenitis 10.2 PRTN3 IGHV4-38-2
19 breast lymphoma 10.2 SPN CD79A
20 agammaglobulinemia 4, autosomal recessive 10.2 CD79B BLNK
21 composite lymphoma 10.2 IGHV4-38-2 CD79A
22 gastrointestinal lymphoma 10.2 SPN CD79A
23 testicular lymphoma 10.2 IGHV4-38-2 CD79B CD79A
24 heavy chain disease 10.2 IGHV4-38-2 CD79A
25 tracheal lymphoma 10.2 SPN IGHV4-38-2
26 central nervous system hematologic cancer 10.2 IGHV4-38-2 CD79B CD79A
27 lymphoplasmacytic lymphoma 10.2 IGHV4-38-2 CD79B CD79A
28 dacryocystocele 10.2 PRTN3 IGHV4-38-2
29 alpha chain disease 10.2 SPN CD79A
30 chronic inflammation of lacrimal passage 10.2 PRTN3 IGHV4-38-2
31 breast osteosarcoma 10.2 SPN CD79A
32 dowling-degos disease 1 10.2
33 legius syndrome 10.1
34 dyschromatosis universalis hereditaria 2 10.1
35 dyschromatosis universalis hereditaria 10.1
36 pigmentation disease 10.1
37 erythrokeratoderma ''en cocardes'' 10.1
38 macules hereditary congenital hypopigmented and hyperpigmented 10.1
39 rare genetic skin disease 10.1
40 thyroid carcinoma 10.1
41 hemochromatosis, type 5 10.1 HJV AP5M1
42 subglottis neoplasm 10.1 SPN CD79A
43 gallbladder lymphoma 10.1 SPN CD79A
44 plasma protein metabolism disease 10.1 PRTN3 IGHV4-38-2 CD79B
45 agammaglobulinemia, non-bruton type 10.1 IGLL1 CD79B CD79A BLNK
46 agammaglobulinemia, x-linked 10.1 IGLL1 CD79B CD79A BLNK
47 spleen cancer 10.0 SPN IGHV4-38-2 CD79B CD79A
48 cll/sll 10.0 SPN IGHV4-38-2 CD79B CD79A
49 marginal zone b-cell lymphoma 10.0 SPN IGHV4-38-2 CD79B CD79A
50 lymphoma, mucosa-associated lymphoid type 10.0 SPN IGHV4-38-2 CD79B CD79A

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 hyperkeratosis 31 HP:0000962
3 hypopigmented skin patches 31 HP:0001053
4 multiple lentigines 31 HP:0001003
5 cafe-au-lait spot 31 HP:0000957
6 progressive hyperpigmentation 31 HP:0007505

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
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 (Updated 05-Mar-2021)

MGI Mouse Phenotypes related to Hyperpigmentation with or Without Hypopigmentation, Familial Progressive:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.06 AP4M1 AP5M1 ASPN BLNK CD79A CD79B
2 immune system MP:0005387 9.73 AP5M1 BLNK CD79A CD79B HJV IGLL5
3 neoplasm MP:0002006 9.1 BLNK CD79A KITLG RAG2 SPN SPP1

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...

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

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

(show all 15)
# Title Authors PMID Year
1
KITLG mutations cause familial progressive hyper- and hypopigmentation. 57 6 61
21368769 2011
2
Gain-of-function mutation of KIT ligand on melanin synthesis causes familial progressive hyperpigmentation. 6 57
19375057 2009
3
Familial hyper- and hypopigmentation with age-related pattern change. 6 57
15551335 2005
4
Progressive hyperpigmentation and generalized lentiginosis without associated systemic symptoms: a rare hereditary pigmentation disorder in south-east Germany. 6 57
15040480 2004
5
Universal inherited melanodyschromatosis: a case of melanosis universalis hereditaria? 57
2802660 1989
6
Hereditary congenital hypopigmented and hyperpigmented macules. 57
666331 1978
7
Familial progressive hyperpigmentation. 57
4326548 1971
8
Diffuse pigmentation in brothers. 57
14371572 1955
9
Identification of a novel mutation in the KITLG gene in a Chinese family with familial progressive hyper- and hypopigmentation. 61
33407466 2021
10
Co-Existence of Congenital Adrenal Hyperplasia and Familial Hypokalemic Periodic Paralysis due to CYP21A2 and SCN4A Pathogenic Variants. 61
33389921 2021
11
Novel mutation in the KITLG gene in familial progressive hyperpigmentation with or without hypopigmentation. 61
32189379 2020
12
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
13
Familial progressive hyper- and hypopigmentation: a report on a Chinese family and evidence for genetic heterogeneity. 61
29186243 2017
14
Familial progressive hyper- and hypopigmentation and malignancy in two families with new mutations in KITLG. 61
26179221 2015
15
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...

Pathways related to Hyperpigmentation with or Without Hypopigmentation, Familial Progressive according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.61 CD79B CD79A BLNK
2
Show member pathways
11.46 CD79B CD79A BLNK
3 11.32 SPN KITLG CD79B CD79A
4 11.22 RAG2 PRTN3 KITLG
5 10.5 RAG2 IGLL1 CD79A BLNK

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

Cellular components related to Hyperpigmentation with or Without Hypopigmentation, Familial Progressive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 immunoglobulin complex, circulating GO:0042571 9.33 IGLL5 IGLL1 IGHV4-38-2
2 external side of plasma membrane GO:0009897 9.1 SPN IGLL5 IGLL1 IGHV4-38-2 CD79B CD79A
3 B cell receptor complex GO:0019815 8.96 CD79B CD79A

Biological processes related to Hyperpigmentation with or Without Hypopigmentation, Familial Progressive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 defense response to bacterium GO:0042742 9.55 SPN RAG2 IGLL5 IGLL1 IGHV4-38-2
2 phagocytosis, engulfment GO:0006911 9.54 IGLL5 IGLL1 IGHV4-38-2
3 positive regulation of B cell activation GO:0050871 9.5 IGLL5 IGLL1 IGHV4-38-2
4 phagocytosis, recognition GO:0006910 9.43 IGLL5 IGLL1 IGHV4-38-2
5 B cell differentiation GO:0030183 9.26 RAG2 CD79B CD79A BLNK
6 B cell receptor signaling pathway GO:0050853 9.1 IGLL5 IGLL1 IGHV4-38-2 CD79B CD79A BLNK

Molecular functions related to Hyperpigmentation with or Without Hypopigmentation, Familial Progressive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 antigen binding GO:0003823 9.13 IGLL5 IGLL1 IGHV4-38-2
2 immunoglobulin receptor binding GO:0034987 8.8 IGLL5 IGLL1 IGHV4-38-2

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

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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