MCID: HYP528
MIFTS: 16

Hypotrichosis 11

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Hypotrichosis 11

MalaCards integrated aliases for Hypotrichosis 11:

Name: Hypotrichosis 11 57 12 75 29 13 6 73
Hypt11 57 12 75
Hypotrichosis, Type 11 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
intrafamilial variability in degree of hypotrichosis


HPO:

32
hypotrichosis 11:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 615059
Disease Ontology 12 DOID:0110708
MeSH 44 D007039
SNOMED-CT via HPO 69 263681008 53602002 56558005
UMLS 73 C3554409

Summaries for Hypotrichosis 11

UniProtKB/Swiss-Prot : 75 Hypotrichosis 11: 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. HYPT11 is characterized by scanty or absent eyebrows and a highly variable degree of alopecia since birth, ranging from slight thinning of scalp and axillary hair to complete loss of scalp and body hair. Pubic hair remains mainly unaffected.

MalaCards based summary : Hypotrichosis 11, is also known as hypt11. An important gene associated with Hypotrichosis 11 is SNRPE (Small Nuclear Ribonucleoprotein Polypeptide E). Related phenotypes are hypotrichosis and absent axillary hair

Disease Ontology : 12 A hypotrichosis that has material basis in a autosomal dominant mutation of SNRPE on chromosome 1q32.1.

Description from OMIM: 615059

Related Diseases for Hypotrichosis 11

Symptoms & Phenotypes for Hypotrichosis 11

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Head:
hypotrichosis or alopecia

Skin Nails Hair Hair:
hypotrichosis or alopecia
sparse or absent eyebrows
sparse or absent eyelashes
absent axillary hair
absent body hair
more
Head And Neck Eyes:
sparse or absent eyebrows
sparse or absent eyelashes


Clinical features from OMIM:

615059

Human phenotypes related to Hypotrichosis 11:

32
# Description HPO Frequency HPO Source Accession
1 hypotrichosis 32 HP:0001006
2 absent axillary hair 32 HP:0002221
3 aplasia/hypoplasia of the eyebrow 32 HP:0100840
4 sparse or absent eyelashes 32 HP:0200102

Drugs & Therapeutics for Hypotrichosis 11

Search Clinical Trials , NIH Clinical Center for Hypotrichosis 11

Genetic Tests for Hypotrichosis 11

Genetic tests related to Hypotrichosis 11:

# Genetic test Affiliating Genes
1 Hypotrichosis 11 29 SNRPE

Anatomical Context for Hypotrichosis 11

Publications for Hypotrichosis 11

Variations for Hypotrichosis 11

UniProtKB/Swiss-Prot genetic disease variations for Hypotrichosis 11:

75
# Symbol AA change Variation ID SNP ID
1 SNRPE p.Gly45Ser VAR_069619 rs587776925

ClinVar genetic disease variations for Hypotrichosis 11:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SNRPE NM_003094.3(SNRPE): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs587776924 GRCh37 Chromosome 1, 203830788: 203830788
2 SNRPE NM_003094.3(SNRPE): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs587776924 GRCh38 Chromosome 1, 203861660: 203861660
3 SNRPE NM_003094.3(SNRPE): c.133G> A (p.Gly45Ser) single nucleotide variant Pathogenic rs587776925 GRCh37 Chromosome 1, 203832842: 203832842
4 SNRPE NM_003094.3(SNRPE): c.133G> A (p.Gly45Ser) single nucleotide variant Pathogenic rs587776925 GRCh38 Chromosome 1, 203863714: 203863714

Expression for Hypotrichosis 11

Search GEO for disease gene expression data for Hypotrichosis 11.

Pathways for Hypotrichosis 11

GO Terms for Hypotrichosis 11

Sources for Hypotrichosis 11

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
Content
Loading form....