HYPT8
MCID: HYP559
MIFTS: 36

Hypotrichosis 8 (HYPT8)

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

Aliases & Classifications for Hypotrichosis 8

MalaCards integrated aliases for Hypotrichosis 8:

Name: Hypotrichosis 8 56 12 73 29 13 6 15 71
Hypt8 56 12 73
Lah3 56 12 73
Woolly Hair, Autosomal Recessive 1, with or Without Hypotrichosis 56 71
Autosomal Recessive Woolly Hair 1, with or Without Hypotrichosis 29 6
Hypotrichosis, Localized, Autosomal Recessive 3 56 12
Woolly Hair Autosomal Recessive 1 with or Without Hypotrichosis 73
Hypotrichosis, Localized, Autosomal Recessive 3; Lah3 56
Hypotrichosis Localized Autosomal Recessive 3 73
Hypotrichosis, Type 8 39
Arwh1 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
variable phenotype within families ranging from woolly hair to hypotrichosis



Classifications:



External Ids:

Disease Ontology 12 DOID:0110705
OMIM 56 278150
OMIM Phenotypic Series 56 PS605389
UMLS 71 C1848435 C3279470

Summaries for Hypotrichosis 8

OMIM : 56 Hypotrichosis simplex refers to a group of hereditary isolated alopecias characterized by diffuse and progressive hair loss, usually beginning in early childhood (Pasternack et al., 2008). Localized autosomal recessive hypotrichosis (LAH) 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 (summary by Schaffer et al., 2006). Woolly hair (WH) refers to a group of hair shaft disorders that are characterized by fine and tightly curled hair. Compared to normal curly hair that is observed in some populations, WH grows slowly and stops growing after a few inches. Under light microscopy, WH shows some structural anomalies, including trichorrhexis nodosa and tapered ends (summary by Petukhova et al., 2009). Several families have been reported in which some affected individuals exhibit features of hypotrichosis and others have woolly scalp hair (Khan et al., 2011). Woolly hair is also a feature of several syndromes, such as Naxos disease (601214) and cardiofaciocutaneous syndrome (115150) (Petukhova et al., 2009), or the palmoplantar keratoderma and cardiomyopathy syndrome (601214) (Carvajal-Huerta, 1998). (278150)

MalaCards based summary : Hypotrichosis 8, also known as hypt8, is related to hypotrichosis 6 and hypotrichosis simplex. An important gene associated with Hypotrichosis 8 is LPAR6 (Lysophosphatidic Acid Receptor 6), and among its related pathways/superpathways is Keratinization. Related phenotypes are sparse scalp hair and woolly hair

Disease Ontology : 12 A hypotrichosis has material basis in a autosomal recessive mutation of LPAR6 on chromosome 13q14.2.

UniProtKB/Swiss-Prot : 73 Hypotrichosis 8: 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.
Woolly hair autosomal recessive 1 with or without hypotrichosis: A hair shaft disorder characterized by fine and tightly curled hair. Compared to normal curly hair that is observed in some populations, woolly hair grows slowly and stops growing after a few inches. Under light microscopy, woolly hair shows some structural anomalies, including trichorrhexis nodosa and tapered ends. Some individuals exhibit features of hypotrichosis.

Related Diseases for Hypotrichosis 8

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 8 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 29)
# Related Disease Score Top Affiliating Genes
1 hypotrichosis 6 30.1 LPAR6 LIPH KRT74 DSG4
2 hypotrichosis simplex 29.7 LPAR6 LIPH DSG4 CDSN
3 hypotrichosis 7 29.1 TMEM41A LPAR6 LIPH KRT74 KRT25 DSG4
4 familial woolly hair syndrome 29.0 LPAR6 LIPH KRT74 KRT25 DSG4 CDSN
5 hypotrichosis 29.0 RB1 LPAR6 LIPH KRT74 KRT25 DSG4
6 hypotrichosis 1 11.3
7 unilateral retinoblastoma 10.2 RB1 LPAR6
8 leukocoria 10.2 RB1 LPAR6
9 alopecia 10.2
10 ectodermal dysplasia 6, hair/nail type 10.1 KRT74 DSG4
11 ectodermal dysplasia 5, hair/nail type 10.1 KRT74 DSG4
12 naegeli-franceschetti-jadassohn syndrome 10.1 KRT74 KRT25
13 bilateral retinoblastoma 10.1 RB1 LPAR6
14 ectodermal dysplasia 9, hair/nail type 10.0 KRT74 DSG4
15 hypotrichosis simplex of the scalp 10.0 KRT74 CDSN
16 hypotrichosis 11 10.0 LPAR6 LIPH KRT74
17 ectodermal dysplasia 7, hair/nail type 10.0 KRT74 DSG4
18 hypotrichosis 4 10.0 LPAR6 LIPH KRT74
19 hypotrichosis 3 10.0 LPAR6 LIPH KRT74
20 naxos disease 10.0 LPAR6 DSG4
21 hypotrichosis 13 9.8 LPAR6 LIPH KRT25 DSG4
22 woolly hair, autosomal dominant 9.8 LPAR6 LIPH KRT74 KRT25
23 hypotrichosis, congenital, with juvenile macular dystrophy 9.8 LIPH DSG4 CDSN
24 bullous skin disease 9.8 SERPINA3 DSG4
25 ectodermal dysplasia 4, hair/nail type 9.7 LPAR6 LIPH KRT74 DSG4
26 t-cell immunodeficiency, congenital alopecia, and nail dystrophy 9.7 LPAR6 LIPH DSG4 CDSN
27 atrichia with papular lesions 9.4 LPAR6 LIPH KRT74 DSG4 CDSN
28 hair disease 9.4 LPAR6 LIPH KRT74 DSG4 CDSN
29 monilethrix 9.2 LPAR6 LIPH KRT74 KRT25 DSG4 CDSN

Graphical network of the top 20 diseases related to Hypotrichosis 8:



Diseases related to Hypotrichosis 8

Symptoms & Phenotypes for Hypotrichosis 8

Human phenotypes related to Hypotrichosis 8:

31 (show all 12)
# Description HPO Frequency HPO Source Accession
1 sparse scalp hair 31 occasional (7.5%) HP:0002209
2 woolly hair 31 occasional (7.5%) HP:0002224
3 ridged nail 31 occasional (7.5%) HP:0001807
4 sparse eyelashes 31 occasional (7.5%) HP:0000653
5 nail pits 31 occasional (7.5%) HP:0001803
6 sparse axillary hair 31 occasional (7.5%) HP:0002215
7 dry hair 31 occasional (7.5%) HP:0011359
8 sparse and thin eyebrow 31 occasional (7.5%) HP:0000535
9 coarse hair 31 HP:0002208
10 sparse hair 31 HP:0008070
11 comedo 31 HP:0025249
12 fair hair 31 HP:0002286

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Teeth:
normal teeth

Skin Nails Hair Hair:
sparse scalp hair (in some patients)
twisted hair shaft
tapered distal end of hair
absent root sheath components in bulb portion of plucked hair
comedo-like remnant hair follicles
more
Skin Nails Hair Skin Histology:
absent root sheath components in bulb portion of plucked hair
comedo-like remnant hair follicles

Skin Nails Hair Skin:
normal sweating

Head And Neck Eyes:
sparse eyebrows (in some patients)
sparse eyelashes (in some patients)

Skin Nails Hair Nails:
normal nails (in most patients)
pitted nails (rare)
longitudinal ridging (rare)

Clinical features from OMIM:

278150

Drugs & Therapeutics for Hypotrichosis 8

Search Clinical Trials , NIH Clinical Center for Hypotrichosis 8

Genetic Tests for Hypotrichosis 8

Genetic tests related to Hypotrichosis 8:

# Genetic test Affiliating Genes
1 Autosomal Recessive Woolly Hair 1, with or Without Hypotrichosis 29
2 Hypotrichosis 8 29 LPAR6

Anatomical Context for Hypotrichosis 8

Publications for Hypotrichosis 8

Articles related to Hypotrichosis 8:

(show all 14)
# Title Authors PMID Year
1
Novel mutations in G protein-coupled receptor gene (P2RY5) in families with autosomal recessive hypotrichosis (LAH3). 56 6 61
18461368 2008
2
Mutations in the LPAR6 and LIPH genes underlie autosomal recessive hypotrichosis/woolly hair in 17 consanguineous families from Pakistan. 56 6
21426374 2011
3
A novel mutation in LPAR6 causes autosomal recessive hypotrichosis of the scalp. 6 56
21070332 2011
4
G protein-coupled receptor P2Y5 and its ligand LPA are involved in maintenance of human hair growth. 6 56
18297070 2008
5
Disruption of P2RY5, an orphan G protein-coupled receptor, underlies autosomal recessive woolly hair. 6 56
18297072 2008
6
Localization of a novel autosomal recessive hypotrichosis locus (LAH3) to chromosome 13q14.11-q21.32. 61 56
17594396 2007
7
The effect of inbreeding on the distribution of compound heterozygotes: a lesson from Lipase H mutations in autosomal recessive woolly hair/hypotrichosis. 56
19365138 2009
8
Mutations in the desmoglein 4 gene underlie localized autosomal recessive hypotrichosis with monilethrix hairs and congenital scalp erosions. 56
16543896 2006
9
Hereditary hypotrichosis simplex: report of a family. 56
12472539 2002
10
Epidermolytic palmoplantar keratoderma with woolly hair and dilated cardiomyopathy. 56
9738775 1998
11
A novel mutation in lysophosphatidic acid receptor 6 gene in autosomal recessive hypotrichosis and evidence for a founder effect. 61
22531990 2012
12
Mutations in the P2RY5 gene underlie autosomal recessive hypotrichosis in 13 Pakistani families. 61
19292720 2009
13
Novel missense mutations in lipase H (LIPH) gene causing autosomal recessive hypotrichosis (LAH2). 61
19167195 2009
14
A novel deletion mutation in LIPH gene causes autosomal recessive hypotrichosis (LAH2). 61
18445047 2008

Variations for Hypotrichosis 8

ClinVar genetic disease variations for Hypotrichosis 8:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 LPAR6 NM_001162497.2(LPAR6):c.373_374del (p.Lys125fs)deletion Pathogenic 592094 rs1566212378 13:48986186-48986187 13:48412050-48412051
2 LPAR6 LPAR6, 2-BP DEL, 373AAdeletion Pathogenic 1825
3 LPAR6 NM_000321.2(RB1):c.1695+30518G>ASNV Pathogenic 1824 rs121434306 13:48986097-48986097 13:48411961-48411961
4 LPAR6 LPAR6, 4-BP INS, 69CATGinsertion Pathogenic 1826
5 LPAR6 NM_000321.2(RB1):c.1695+30419T>ASNV Pathogenic 1827 rs121434307 13:48985998-48985998 13:48411862-48411862
6 LPAR6 NM_000321.2(RB1):c.1695+30416C>TSNV Pathogenic 1829 rs121434309 13:48985995-48985995 13:48411859-48411859
7 LPAR6 NM_000321.2(RB1):c.1695+30394G>ASNV Pathogenic 30780 rs115596308 13:48985973-48985973 13:48411837-48411837
8 KRT25 NM_181534.4(KRT25):c.950T>C (p.Leu317Pro)SNV Pathogenic 217303 rs766783183 17:38907213-38907213 17:40750961-40750961
9 LPAR6 NM_005767.6(LPAR6):c.188A>T (p.Asp63Val)SNV Pathogenic 217499 rs879255262 13:48986372-48986372 13:48412236-48412236
10 LPAR6 NM_005767.6(LPAR6):c.436G>A (p.Gly146Arg)SNV Pathogenic/Likely pathogenic 1828 rs121434308 13:48986124-48986124 13:48411988-48411988

UniProtKB/Swiss-Prot genetic disease variations for Hypotrichosis 8:

73
# Symbol AA change Variation ID SNP ID
1 LPAR6 p.Asp63Val VAR_044326 rs879255262
2 LPAR6 p.Ile188Phe VAR_044327 rs121434307
3 LPAR6 p.Glu189Lys VAR_044328 rs121434309

Expression for Hypotrichosis 8

Search GEO for disease gene expression data for Hypotrichosis 8.

Pathways for Hypotrichosis 8

Pathways related to Hypotrichosis 8 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.38 KRT74 KRT25 DSG4 CDSN

GO Terms for Hypotrichosis 8

Cellular components related to Hypotrichosis 8 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cornified envelope GO:0001533 8.96 DSG4 CDSN
2 desmosome GO:0030057 8.62 DSG4 CDSN

Biological processes related to Hypotrichosis 8 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 keratinocyte differentiation GO:0030216 9.16 DSG4 CDSN
2 keratinization GO:0031424 9.13 KRT74 KRT25 DSG4
3 cornification GO:0070268 8.92 KRT74 KRT25 DSG4 CDSN

Sources for Hypotrichosis 8

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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