HYPT14
MCID: HYP832
MIFTS: 16

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 58 76 6
Hypt14 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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


Classifications:



External Ids:

OMIM 58 618275
MeSH 45 D007039
MedGen 43 CN258053
SNOMED-CT via HPO 70 53602002 56558005

Summaries for Hypotrichosis 14

UniProtKB/Swiss-Prot : 76 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, is also known as hypt14. An important gene associated with Hypotrichosis 14 is LSS (Lanosterol Synthase). Affiliated tissues include eye, and related phenotypes are hypotrichosis and sparse body hair

OMIM : 58 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

Symptoms & Phenotypes for Hypotrichosis 14

Human phenotypes related to Hypotrichosis 14:

33
# Description HPO Frequency HPO Source Accession
1 hypotrichosis 33 HP:0001006
2 sparse body hair 33 HP:0002231

Symptoms via clinical synopsis from OMIM:

58
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

Anatomical Context for Hypotrichosis 14

MalaCards organs/tissues related to Hypotrichosis 14:

42
Eye

Publications for Hypotrichosis 14

Articles related to Hypotrichosis 14:

# Title Authors Year
1
Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex. ( 30401459 )
2018

Variations for Hypotrichosis 14

ClinVar genetic disease variations for Hypotrichosis 14:

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

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
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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