MCID: HYP559
MIFTS: 35

Hypotrichosis 8

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Hypotrichosis 8

MalaCards integrated aliases for Hypotrichosis 8:

Name: Hypotrichosis 8 57 12 75 29 13 6 15 73
Hypt8 57 12 75
Lah3 57 12 75
Woolly Hair, Autosomal Recessive 1, with or Without Hypotrichosis 57 73
Hypotrichosis, Localized, Autosomal Recessive 3 57 12
Autosomal Recessive Woolly Hair 1, with or Without Hypotrichosis 6
Woolly Hair Autosomal Recessive 1 with or Without Hypotrichosis 75
Hypotrichosis, Localized, Autosomal Recessive 3; Lah3 57
Hypotrichosis Localized Autosomal Recessive 3 75
Hypotrichosis, Type 8 40
Arwh1 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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



Classifications:



Summaries for Hypotrichosis 8

OMIM : 57 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 and hypotrichosis 7. An important gene associated with Hypotrichosis 8 is LPAR6 (Lysophosphatidic Acid Receptor 6), and among its related pathways/superpathways are PI3K-Akt signaling pathway and Keratinization. Related phenotypes are coarse hair and hypotrichosis

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

UniProtKB/Swiss-Prot : 75 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

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



Diseases related to Hypotrichosis 8

Symptoms & Phenotypes for Hypotrichosis 8

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Hypotrichosis 8:

32 (show all 11)
# Description HPO Frequency HPO Source Accession
1 coarse hair 32 HP:0002208
2 hypotrichosis 32 HP:0001006
3 sparse scalp hair 32 occasional (7.5%) HP:0002209
4 woolly hair 32 occasional (7.5%) HP:0002224
5 nail pits 32 occasional (7.5%) HP:0001803
6 ridged nail 32 occasional (7.5%) HP:0001807
7 sparse eyelashes 32 occasional (7.5%) HP:0000653
8 sparse axillary hair 32 occasional (7.5%) HP:0002215
9 dry hair 32 occasional (7.5%) HP:0011359
10 fair hair 32 HP:0002286
11 sparse and thin eyebrow 32 occasional (7.5%) HP:0000535

GenomeRNAi Phenotypes related to Hypotrichosis 8 according to GeneCards Suite gene sharing:

26 (show all 20)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.66 RB1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.66 DSG4
3 Increased shRNA abundance (Z-score > 2) GR00366-A-116 9.66 MATN3
4 Increased shRNA abundance (Z-score > 2) GR00366-A-118 9.66 DSG4
5 Increased shRNA abundance (Z-score > 2) GR00366-A-121 9.66 RB1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-124 9.66 DSG4
7 Increased shRNA abundance (Z-score > 2) GR00366-A-126 9.66 DSG4
8 Increased shRNA abundance (Z-score > 2) GR00366-A-143 9.66 MATN3
9 Increased shRNA abundance (Z-score > 2) GR00366-A-147 9.66 DSG4 MATN3 RB1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-149 9.66 DSG4
11 Increased shRNA abundance (Z-score > 2) GR00366-A-172 9.66 RB1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.66 RB1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-196 9.66 MATN3
14 Increased shRNA abundance (Z-score > 2) GR00366-A-210 9.66 RB1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-31 9.66 DSG4
16 Increased shRNA abundance (Z-score > 2) GR00366-A-35 9.66 MATN3
17 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.66 RB1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.66 RB1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.66 RB1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-67 9.66 DSG4

MGI Mouse Phenotypes related to Hypotrichosis 8:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.5 COL2A1 DSG4 KRT25 MATN3 PCK1 RB1
2 adipose tissue MP:0005375 9.46 COL2A1 DSG4 PCK1 RB1
3 integument MP:0010771 9.1 KRT25 LIPH PCK1 RB1 SNCA DSG4

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 Hypotrichosis 8 29 LPAR6

Anatomical Context for Hypotrichosis 8

Publications for Hypotrichosis 8

Variations for Hypotrichosis 8

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

75
# 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

ClinVar genetic disease variations for Hypotrichosis 8:

6
(show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 LPAR6 NM_005767.5(LPAR6): c.463C> T (p.Gln155Ter) single nucleotide variant Pathogenic rs121434306 GRCh37 Chromosome 13, 48986097: 48986097
2 LPAR6 NM_005767.5(LPAR6): c.463C> T (p.Gln155Ter) single nucleotide variant Pathogenic rs121434306 GRCh38 Chromosome 13, 48411961: 48411961
3 LPAR6 LPAR6, 2-BP DEL, 373AA deletion Pathogenic
4 LPAR6 LPAR6, 4-BP INS, 69CATG insertion Pathogenic
5 LPAR6 NM_005767.5(LPAR6): c.562A> T (p.Ile188Phe) single nucleotide variant Pathogenic rs121434307 GRCh37 Chromosome 13, 48985998: 48985998
6 LPAR6 NM_005767.5(LPAR6): c.562A> T (p.Ile188Phe) single nucleotide variant Pathogenic rs121434307 GRCh38 Chromosome 13, 48411862: 48411862
7 LPAR6 NM_005767.5(LPAR6): c.436G> A (p.Gly146Arg) single nucleotide variant Pathogenic/Likely pathogenic rs121434308 GRCh37 Chromosome 13, 48986124: 48986124
8 LPAR6 NM_005767.5(LPAR6): c.436G> A (p.Gly146Arg) single nucleotide variant Pathogenic/Likely pathogenic rs121434308 GRCh38 Chromosome 13, 48411988: 48411988
9 LPAR6 NM_005767.5(LPAR6): c.565G> A (p.Glu189Lys) single nucleotide variant Pathogenic rs121434309 GRCh37 Chromosome 13, 48985995: 48985995
10 LPAR6 NM_005767.5(LPAR6): c.565G> A (p.Glu189Lys) single nucleotide variant Pathogenic rs121434309 GRCh38 Chromosome 13, 48411859: 48411859
11 LPAR6 NM_005767.5(LPAR6): c.587C> T (p.Pro196Leu) single nucleotide variant Pathogenic rs115596308 GRCh37 Chromosome 13, 48985973: 48985973
12 LPAR6 NM_005767.5(LPAR6): c.587C> T (p.Pro196Leu) single nucleotide variant Pathogenic rs115596308 GRCh38 Chromosome 13, 48411837: 48411837
13 KRT25 NM_181534.3(KRT25): c.950T> C (p.Leu317Pro) single nucleotide variant Pathogenic rs766783183 GRCh37 Chromosome 17, 38907213: 38907213
14 KRT25 NM_181534.3(KRT25): c.950T> C (p.Leu317Pro) single nucleotide variant Pathogenic rs766783183 GRCh38 Chromosome 17, 40750961: 40750961
15 LPAR6 NM_005767.5(LPAR6): c.188A> T (p.Asp63Val) single nucleotide variant Pathogenic rs879255262 GRCh38 Chromosome 13, 48412236: 48412236
16 LPAR6 NM_005767.5(LPAR6): c.188A> T (p.Asp63Val) single nucleotide variant Pathogenic rs879255262 GRCh37 Chromosome 13, 48986372: 48986372

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
11.75 COL2A1 LPAR6 PCK1 RB1
2
Show member pathways
11.59 DSG4 KRT25 KRT74

GO Terms for Hypotrichosis 8

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

# Name GO ID Score Top Affiliating Genes
1 keratinization GO:0031424 9.43 DSG4 KRT25 KRT74
2 aging GO:0007568 9.33 KRT25 PCK1 SNCA
3 tissue homeostasis GO:0001894 8.96 COL2A1 RB1
4 cornification GO:0070268 8.8 DSG4 KRT25 KRT74

Molecular functions related to Hypotrichosis 8 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 8.96 COL2A1 MATN3
2 phosphoprotein binding GO:0051219 8.62 RB1 SNCA

Sources for Hypotrichosis 8

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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