HYPT6
MCID: HYP581
MIFTS: 36

Hypotrichosis 6 (HYPT6)

Categories: Eye diseases, Genetic diseases, Oral diseases, Rare diseases

Aliases & Classifications for Hypotrichosis 6

MalaCards integrated aliases for Hypotrichosis 6:

Name: Hypotrichosis 6 58 12 76 30 6 15 74
Hypotrichosis, Localized, Autosomal Recessive 58 13 56
Monilethrix-Like Hypotrichosis 58 12 76
Hypt6 58 12 76
Lah1 58 12 76
Hypotrichosis, Localized, Autosomal Recessive 1 58 12
Lah 58 76
Htl 58 76
Hypotrichosis, Localized, Autosomal Recessive 1; Lah1 58
Hypotrichosis, Localized, Autosomal Recessive; Lah 58
Hypotrichosis Localized Autosomal Recessive 1 76
Autosomal Recessive Localized Hypotrichosis 12
Hypotrichosis Localized Autosomal Recessive 76
Localized Autosomal Recessive Hypotrichosis 38
Hypotrichosis, Type 6 41

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
hypotrichosis 6:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Hypotrichosis 6

OMIM : 58 Localized autosomal recessive hypotrichosis is characterized by fragile hairs that break easily, leaving short, sparse scalp hairs. The disorder affects the trunk and extremities as well as the scalp, and the eyebrows and eyelashes may also be involved, whereas beard, pubic, and axillary hairs are largely spared. In addition, patients can develop hyperkeratotic follicular papules, erythema, and pruritus in affected areas. In some patients with congenital hypotrichosis, monilethrix-like hairs showing elliptical nodes have been observed (summary by Schaffer et al., 2006). (607903)

MalaCards based summary : Hypotrichosis 6, also known as hypotrichosis, localized, autosomal recessive, is related to hypotrichosis 7 and hypotrichosis 8. An important gene associated with Hypotrichosis 6 is DSG4 (Desmoglein 4), and among its related pathways/superpathways are Endocrine and other factor-regulated calcium reabsorption and Mineral absorption. Affiliated tissues include skin, and related phenotypes are pili torti and pruritus

Disease Ontology : 12 A hypotrichosis that has material basis in a autosomal recessive mutation of DSG4 on chromosome 18q12.1.

UniProtKB/Swiss-Prot : 76 Hypotrichosis 6: A condition characterized by the presence of less than the normal amount of hair and abnormal hair follicles and shafts, which are thin and atrophic. The disorder affects the trunk and extremities as well as the scalp, and the eyebrows and eyelashes may also be involved, whereas beard, pubic, and axillary hairs are largely spared. In addition, patients can develop hyperkeratotic follicular papules, erythema, and pruritus in affected areas. In some patients with congenital hypotrichosis, monilethrix-like hairs showing elliptical nodes have been observed.

Related Diseases for Hypotrichosis 6

Graphical network of the top 20 diseases related to Hypotrichosis 6:



Diseases related to Hypotrichosis 6

Symptoms & Phenotypes for Hypotrichosis 6

Human phenotypes related to Hypotrichosis 6:

33 (show all 8)
# Description HPO Frequency HPO Source Accession
1 pili torti 33 occasional (7.5%) HP:0003777
2 pruritus 33 HP:0000989
3 hypotrichosis 33 HP:0001006
4 erythema 33 HP:0010783
5 follicular hyperkeratosis 33 HP:0007502
6 sparse eyelashes 33 HP:0000653
7 brittle hair 33 HP:0002299
8 sparse and thin eyebrow 33 HP:0000535

Symptoms via clinical synopsis from OMIM:

58
Skin Nails Hair Skin Electron Microscopy:
pili torti (in some patients)
elliptical nodes (in some patients)
trichoschisis (in some patients)
tapered hair

Skin Nails Hair Skin Histology:
abnormal hair follicles with thin, atrophic shafts
hair shafts often coiled within skin
marked swelling of precortical region

Skin Nails Hair Skin:
follicular hyperkeratosis of occipital scalp, nape of neck, and extensor surfaces of upper limbs
erythema in affected areas
pruritus in affected areas

Skin Nails Hair Hair:
fragile hair that breaks easily
short, sparse hair on scalp
eyebrows and eyelashes may be sparse
beard, axillary, and pubic hair usually normal

Clinical features from OMIM:

607903

Drugs & Therapeutics for Hypotrichosis 6

Search Clinical Trials , NIH Clinical Center for Hypotrichosis 6

Genetic Tests for Hypotrichosis 6

Genetic tests related to Hypotrichosis 6:

# Genetic test Affiliating Genes
1 Hypotrichosis 6 30 DSG4

Anatomical Context for Hypotrichosis 6

MalaCards organs/tissues related to Hypotrichosis 6:

42
Skin

Publications for Hypotrichosis 6

Articles related to Hypotrichosis 6:

# Title Authors Year
1
Novel D323G mutation of DSG4 gene in a girl with localized autosomal recessive hypotrichosis clinically overlapped with monilethrix. ( 26173648 )
2015
2
Genetic dissection of two Pakistani families with consanguineous localized autosomal recessive hypotrichosis (LAH). ( 25429336 )
2014
3
Hair shaft abnormalities in localized autosomal recessive hypotrichosis 2 and a review of other non-syndromic human alopecias. ( 21537821 )
2011
4
Localized autosomal recessive hypotrichosis due to a frameshift mutation in the desmoglein 4 gene exhibits extensive phenotypic variability within a Pakistani family. ( 17392831 )
2007
5
Mutations in the desmoglein 4 gene underlie localized autosomal recessive hypotrichosis with monilethrix hairs and congenital scalp erosions. ( 16543896 )
2006
6
An autosomal recessive form of monilethrix is caused by mutations in DSG4: clinical overlap with localized autosomal recessive hypotrichosis. ( 16575393 )
2006
7
A missense mutation in the cadherin interaction site of the desmoglein 4 gene underlies localized autosomal recessive hypotrichosis. ( 16297213 )
2005
8
Desmoglein 4 mutations underlie localized autosomal recessive hypotrichosis in humans, mice, and rats. ( 16382669 )
2005
9
A recurrent intragenic deletion in the desmoglein 4 gene underlies localized autosomal recessive hypotrichosis. ( 15304105 )
2004

Variations for Hypotrichosis 6

ClinVar genetic disease variations for Hypotrichosis 6:

6 (show all 17)
# Gene Variation Type Significance SNP ID Assembly Location
1 DSG4 DSG4, EX5-8DEL deletion Pathogenic
2 DSG4 NM_177986.4(DSG4): c.87del (p.Lys30Argfs) deletion Pathogenic GRCh37 Chromosome 18, 28966653: 28966653
3 DSG4 NM_177986.4(DSG4): c.87del (p.Lys30Argfs) deletion Pathogenic GRCh38 Chromosome 18, 31386690: 31386690
4 DSG4 NM_177986.4(DSG4): c.574T> C (p.Ser192Pro) single nucleotide variant Pathogenic rs267606775 GRCh37 Chromosome 18, 28970675: 28970675
5 DSG4 NM_177986.4(DSG4): c.574T> C (p.Ser192Pro) single nucleotide variant Pathogenic rs267606775 GRCh38 Chromosome 18, 31390712: 31390712
6 DSG4 NM_177986.4(DSG4): c.2038dup (p.Ser680Phefs) duplication Pathogenic rs786200875 GRCh38 Chromosome 18, 31409556: 31409556
7 DSG4 NM_177986.4(DSG4): c.2038dup (p.Ser680Phefs) duplication Pathogenic rs786200875 GRCh37 Chromosome 18, 28989519: 28989519
8 DSG4 NM_177986.4(DSG4): c.216+1G> T single nucleotide variant Pathogenic GRCh37 Chromosome 18, 28966783: 28966783
9 DSG4 NM_177986.4(DSG4): c.216+1G> T single nucleotide variant Pathogenic GRCh38 Chromosome 18, 31386820: 31386820
10 DSG4 NM_177986.4(DSG4): c.800C> G (p.Pro267Arg) single nucleotide variant Pathogenic rs267606776 GRCh37 Chromosome 18, 28971156: 28971156
11 DSG4 NM_177986.4(DSG4): c.800C> G (p.Pro267Arg) single nucleotide variant Pathogenic rs267606776 GRCh38 Chromosome 18, 31391193: 31391193
12 DSG4 NM_177986.4(DSG4): c.763del (p.Cys255Valfs) deletion Pathogenic GRCh37 Chromosome 18, 28971119: 28971119
13 DSG4 NM_177986.4(DSG4): c.763del (p.Cys255Valfs) deletion Pathogenic GRCh38 Chromosome 18, 31391156: 31391156
14 DSG4 NM_177986.4(DSG4): c.865C> T (p.Arg289Ter) single nucleotide variant Pathogenic rs267606777 GRCh37 Chromosome 18, 28972163: 28972163
15 DSG4 NM_177986.4(DSG4): c.865C> T (p.Arg289Ter) single nucleotide variant Pathogenic rs267606777 GRCh38 Chromosome 18, 31392200: 31392200
16 DSG4 NM_177986.4(DSG4): c.1198G> A (p.Gly400Arg) single nucleotide variant not provided GRCh38 Chromosome 18, 31399464: 31399464
17 DSG4 NM_177986.4(DSG4): c.1198G> A (p.Gly400Arg) single nucleotide variant not provided GRCh37 Chromosome 18, 28979427: 28979427

Expression for Hypotrichosis 6

Search GEO for disease gene expression data for Hypotrichosis 6.

Pathways for Hypotrichosis 6

Pathways related to Hypotrichosis 6 according to KEGG:

38
# Name Kegg Source Accession
1 Endocrine and other factor-regulated calcium reabsorption hsa04961
2 Mineral absorption hsa04978

GO Terms for Hypotrichosis 6

Biological processes related to Hypotrichosis 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lipid catabolic process GO:0016042 8.62 LIPC LIPH

Molecular functions related to Hypotrichosis 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.43 CYP2C18 LOX SNCA
2 copper ion binding GO:0005507 9.16 LOX SNCA
3 carboxylic ester hydrolase activity GO:0052689 8.96 LIPC LIPH
4 phospholipase activity GO:0004620 8.62 LIPC LIPH

Sources for Hypotrichosis 6

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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