HYPT14
MCID: HYP832
MIFTS: 22

Hypotrichosis 14 (HYPT14)

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

Aliases & Classifications for Hypotrichosis 14

MalaCards integrated aliases for Hypotrichosis 14:

Name: Hypotrichosis 14 57 12 74 29 6
Hypt14 57 74

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
a patient has been reported with congenital cataract () and hypotrichosis due to compound heterozygous mutations in lss


HPO:

32
hypotrichosis 14:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080582
MeSH 44 D007039

Summaries for Hypotrichosis 14

UniProtKB/Swiss-Prot : 74 Hypotrichosis 14: A form of hypotrichosis, 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 extent of scalp and body hair involvement can be very variable, within as well as between families. HYPT14 is an autosomal recessive form characterized by sparse to absent lanugo-like scalp hair, sparse and brittle eyebrows, and sparse eyelashes and body hair.

MalaCards based summary : Hypotrichosis 14, also known as hypt14, is related to hypotrichosis. An important gene associated with Hypotrichosis 14 is LSS (Lanosterol Synthase). Related phenotypes are hypotrichosis and sparse body hair

Disease Ontology : 12 A hypotrichosis that is characterized by sparse to absent lanugo-like scalp hair, sparse and brittle eyebrows, and sparse eyelashes and body hair and\nthat has material basis in homozygous or compound heterozygous mutation in the LSS gene on chromosome 21q22.

OMIM : 57 Hypotrichosis-14 is characterized by sparse to absent lanugo-like scalp hair, sparse and brittle eyebrows, and sparse eyelashes and body hair (Romano et al., 2018). For a discussion of genetic heterogeneity of hypotrichosis, see HYPT1 (605389). (618275)

Related Diseases for Hypotrichosis 14

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

# Related Disease Score Top Affiliating Genes
1 hypotrichosis 10.0

Symptoms & Phenotypes for Hypotrichosis 14

Human phenotypes related to Hypotrichosis 14:

32
# Description HPO Frequency HPO Source Accession
1 hypotrichosis 32 HP:0001006
2 sparse body hair 32 HP:0002231

Symptoms via clinical synopsis from OMIM:

57
Skin Nails Hair Hair:
hypotrichosis
sparse body hair
sparse to absent lanugo-like scalp hair
sparse and brittle eyebrows
sparse and brittle eyelashes
more

Clinical features from OMIM:

618275

Drugs & Therapeutics for Hypotrichosis 14

Search Clinical Trials , NIH Clinical Center for Hypotrichosis 14

Genetic Tests for Hypotrichosis 14

Genetic tests related to Hypotrichosis 14:

# Genetic test Affiliating Genes
1 Hypotrichosis 14 29 LSS

Anatomical Context for Hypotrichosis 14

Publications for Hypotrichosis 14

Articles related to Hypotrichosis 14:

# Title Authors PMID Year
1
Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex. 8 71
30401459 2018
2
Congenital cataract with LSS gene mutations: a new case report. 8
29016354 2017
3
Lanosterol reverses protein aggregation in cataracts. 8
26200341 2015
4
A novel and a known mutation in LSS gene associated with hypotrichosis 14 in a Chinese family. 38
31322293 2019

Variations for Hypotrichosis 14

ClinVar genetic disease variations for Hypotrichosis 14:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 LSS NM_001001438.2(LSS): c.1172T> C (p.Phe391Ser) single nucleotide variant Pathogenic 21:47630624-47630624 21:46210710-46210710
2 LSS NM_001001438.2(LSS): c.743T> C (p.Leu248Pro) single nucleotide variant Pathogenic 21:47636343-47636343 21:46216429-46216429
3 LSS NM_001001438.2(LSS): c.304C> G (p.Leu102Val) single nucleotide variant Pathogenic 21:47647481-47647481 21:46227567-46227567
4 LSS NM_001001438.2(LSS): c.423G> A (p.Trp141Ter) single nucleotide variant Pathogenic 21:47642549-47642549 21:46222635-46222635
5 LSS NM_001001438.2(LSS): c.625A> T (p.Asn209Tyr) single nucleotide variant Pathogenic 21:47639412-47639412 21:46219498-46219498

UniProtKB/Swiss-Prot genetic disease variations for Hypotrichosis 14:

74
# Symbol AA change Variation ID SNP ID
1 LSS p.Leu102Val VAR_081921
2 LSS p.Asn209Tyr VAR_081923
3 LSS p.Leu248Pro VAR_081924

Expression for Hypotrichosis 14

Search GEO for disease gene expression data for Hypotrichosis 14.

Pathways for Hypotrichosis 14

GO Terms for Hypotrichosis 14

Sources for Hypotrichosis 14

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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