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 57 12 74 29 6 15 72
Hypotrichosis, Localized, Autosomal Recessive 57 13 55
Monilethrix-Like Hypotrichosis 57 12 74
Hypt6 57 12 74
Lah1 57 12 74
Hypotrichosis, Localized, Autosomal Recessive 1 57 12
Lah 57 74
Htl 57 74
Hypotrichosis, Localized, Autosomal Recessive 1; Lah1 57
Hypotrichosis, Localized, Autosomal Recessive; Lah 57
Hypotrichosis Localized Autosomal Recessive 1 74
Autosomal Recessive Localized Hypotrichosis 12
Hypotrichosis Localized Autosomal Recessive 74
Localized Autosomal Recessive Hypotrichosis 37
Hypotrichosis, Type 6 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
hypotrichosis 6:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110703
KEGG 37 H00784
MeSH 44 D007039
UMLS 72 C1842839

Summaries for Hypotrichosis 6

OMIM : 57 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 eye and 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.

KEGG : 37
Localized autosomal recessive hypotrichosis is a rare non-syndromic human alopecia/hypotrichosis that is inherited as an autosomal recessive trait. Affected individuals display short, sparse hairs on the scalp, trunk, and extremities. Facial hair including the eye-brows, eye-lashes and beard show a broad range of hypotrichosis from almost normal to less dense condition. Patients' skin is normal.

UniProtKB/Swiss-Prot : 74 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

Diseases in the Hypotrichosis family:

Hypotrichosis 2 Hypotrichosis 4
Hypotrichosis 8 Hypotrichosis 7
Hypotrichosis 1 Hypotrichosis 6
Hypotrichosis 5 Hypotrichosis 3
Hypotrichosis 9 Hypotrichosis 10
Hypotrichosis 11 Hypotrichosis 12
Hypotrichosis 13 Hypotrichosis 14

Diseases related to Hypotrichosis 6 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 36)
# Related Disease Score Top Affiliating Genes
1 hypotrichosis 7 31.2 SNCA LPAR6 LIPH DSG4
2 hypotrichosis 8 31.1 SNCA LPAR6 LIPH DSG4
3 monilethrix 30.0 LPAR6 DSG4
4 hypotrichosis simplex 29.9 LPAR6 LIPH DSG4
5 hypotrichosis 29.7 LPAR6 LIPH DSG4
6 loose anagen hair syndrome 11.8
7 noonan syndrome-like disorder with loose anagen hair 1 11.5
8 lymphoma 10.2
9 b-cell lymphoma 10.2
10 alopecia 10.2
11 hypotrichosis-lymphedema-telangiectasia syndrome 10.2
12 hearing loss, noise-induced 10.2
13 hereditary lymphedema 10.2
14 telangiectasis 10.2
15 liposarcoma 10.2
16 retroperitoneal liposarcoma 10.2
17 lymphedema 10.2
18 hepatocellular carcinoma 10.1
19 cleft palate, isolated 10.1
20 mycosis fungoides 10.1
21 netherton syndrome 10.1
22 epilepsy, idiopathic generalized 10.1
23 tick-borne encephalitis 10.1
24 cutaneous t cell lymphoma 10.1
25 leukemia 10.1
26 panniculitis 10.1
27 histiocytosis 10.1
28 liver cirrhosis 10.1
29 influenza 10.1
30 malignant histiocytosis 10.1
31 encephalitis 10.1
32 growth hormone deficiency 10.1
33 splenomegaly 10.1
34 hypotrichosis 2 10.1
35 woolly hair syndrome 9.8 LPAR6 LIPH
36 hair disease 9.6 LPAR6 LIPH DSG4

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:

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 pili torti 32 occasional (7.5%) HP:0003777
2 pruritus 32 HP:0000989
3 erythema 32 HP:0010783
4 hypotrichosis 32 HP:0001006
5 follicular hyperkeratosis 32 HP:0007502
6 sparse eyelashes 32 HP:0000653
7 brittle hair 32 HP:0002299
8 sparse and thin eyebrow 32 HP:0000535

Symptoms via clinical synopsis from OMIM:

57
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 29 DSG4

Anatomical Context for Hypotrichosis 6

MalaCards organs/tissues related to Hypotrichosis 6:

41
Eye, Skin

Publications for Hypotrichosis 6

Articles related to Hypotrichosis 6:

(show all 18)
# Title Authors PMID Year
1
An autosomal recessive form of monilethrix is caused by mutations in DSG4: clinical overlap with localized autosomal recessive hypotrichosis. 9 8 71
16575393 2006
2
Mutations in the desmoglein 4 gene are associated with monilethrix-like congenital hypotrichosis. 9 8 71
16439973 2006
3
Localized autosomal recessive hypotrichosis due to a frameshift mutation in the desmoglein 4 gene exhibits extensive phenotypic variability within a Pakistani family. 8 71
17392831 2007
4
Mutations in the desmoglein 4 gene underlie localized autosomal recessive hypotrichosis with monilethrix hairs and congenital scalp erosions. 8 71
16543896 2006
5
Desmoglein 4 in hair follicle differentiation and epidermal adhesion: evidence from inherited hypotrichosis and acquired pemphigus vulgaris. 8 71
12705872 2003
6
Localization of a novel autosomal recessive hypotrichosis locus (LAH3) to chromosome 13q14.11-q21.32. 8
17594396 2007
7
A locus for hereditary hypotrichosis localized to human chromosome 18q21.1. 8
12891384 2003
8
[On monilethrix]. 8
13991022 1962
9
Patatin-like lipolytic acyl hydrolases and galactolipid metabolism in marine diatoms of the genus Pseudo-nitzschia. 38
30521937 2019
10
Histidine-rich designer peptides of the LAH4 family promote cell delivery of a multitude of cargo. 38
28067008 2017
11
Mutations in the P2RY5 gene underlie autosomal recessive hypotrichosis in 13 Pakistani families. 38
19292720 2009
12
Novel missense mutations in lipase H (LIPH) gene causing autosomal recessive hypotrichosis (LAH2). 38
19167195 2009
13
A novel deletion mutation in LIPH gene causes autosomal recessive hypotrichosis (LAH2). 38
18445047 2008
14
Novel mutations in G protein-coupled receptor gene (P2RY5) in families with autosomal recessive hypotrichosis (LAH3). 38
18461368 2008
15
Desmoglein 4 mutations underlie localized autosomal recessive hypotrichosis in humans, mice, and rats. 9
16382669 2005
16
Pleiotropic deficiencies of the laccase-derepressed mutant lah-1 are caused by constitutively increased expression of the cross-pathway control gene cpc-1 in Neurospora crassa. 38
9671030 1998
17
Characterization of a post-translational modification of Campylobacter flagellin: identification of a sero-specific glycosyl moiety. 38
8825782 1996
18
Variation in antigenicity and molecular weight of Campylobacter coli VC167 flagellin in different genetic backgrounds. 38
1624417 1992

Variations for Hypotrichosis 6

ClinVar genetic disease variations for Hypotrichosis 6:

6 (show all 11)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 DSG4 NM_177986.5(DSG4): c.763del (p.Cys255fs) deletion Pathogenic 18:28971119-28971119 18:31391156-31391156
2 DSG4 NM_177986.5(DSG4): c.865C> T (p.Arg289Ter) single nucleotide variant Pathogenic rs267606777 18:28972163-28972163 18:31392200-31392200
3 DSG4 DSG4, EX5-8DEL deletion Pathogenic
4 DSG4 NM_177986.5(DSG4): c.87del (p.Lys30fs) deletion Pathogenic 18:28966653-28966653 18:31386690-31386690
5 DSG4 NM_177986.5(DSG4): c.574T> C (p.Ser192Pro) single nucleotide variant Pathogenic rs267606775 18:28970675-28970675 18:31390712-31390712
6 DSG4 NM_177986.5(DSG4): c.2038dup (p.Ser680fs) duplication Pathogenic rs786200875 18:28989519-28989519 18:31409556-31409556
7 DSG4 NM_177986.5(DSG4): c.216+1G> T single nucleotide variant Pathogenic 18:28966783-28966783 18:31386820-31386820
8 DSG4 NM_177986.5(DSG4): c.800C> G (p.Pro267Arg) single nucleotide variant Pathogenic rs267606776 18:28971156-28971156 18:31391193-31391193
9 DSG4 NM_177986.5(DSG4): c.2928del (p.Asp976fs) deletion Uncertain significance 18:28993362-28993363 18:31413400-31413400
10 DSG4 NM_177986.5(DSG4): c.3091C> T (p.Arg1031Ter) single nucleotide variant Uncertain significance 18:28993526-28993526 18:31413563-31413563
11 DSG4 NM_177986.5(DSG4): c.1198G> A (p.Gly400Arg) single nucleotide variant not provided 18:28979427-28979427 18:31399464-31399464

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:

37
# 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 LIPH LIPC

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 SNCA LOX CYP2C18
2 copper ion binding GO:0005507 9.16 SNCA LOX
3 carboxylic ester hydrolase activity GO:0052689 8.96 LIPH LIPC
4 phospholipase activity GO:0004620 8.62 LIPH LIPC

Sources for Hypotrichosis 6

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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