HYPT11
MCID: HYP528
MIFTS: 29

Hypotrichosis 11 (HYPT11)

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

Aliases & Classifications for Hypotrichosis 11

MalaCards integrated aliases for Hypotrichosis 11:

Name: Hypotrichosis 11 57 12 72 29 13 6 15 70
Hypt11 57 12 72
Hypotrichosis, Type 11 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
intrafamilial variability in degree of hypotrichosis


HPO:

31
hypotrichosis 11:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110708
OMIM® 57 615059
OMIM Phenotypic Series 57 PS605389
MeSH 44 D007039
UMLS 70 C3554409

Summaries for Hypotrichosis 11

UniProtKB/Swiss-Prot : 72 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 an autosomal dominant form 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, also known as hypt11, is related to acrocephalopolysyndactyly type iii and ectodermal dysplasia 6, hair/nail type. An important gene associated with Hypotrichosis 11 is SNRPE (Small Nuclear Ribonucleoprotein Polypeptide E), and among its related pathways/superpathways is Keratinization. Related phenotypes are alopecia and aplasia/hypoplasia of the eyebrow

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

More information from OMIM: 615059 PS605389

Related Diseases for Hypotrichosis 11

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

(show all 26)
# Related Disease Score Top Affiliating Genes
1 acrocephalopolysyndactyly type iii 10.0 RBM28 DCAF17
2 ectodermal dysplasia 6, hair/nail type 9.9 KRT74 DSG4
3 ectodermal dysplasia 5, hair/nail type 9.9 KRT74 DSG4
4 alopecia 9.9 RIN2 RBM28 DCAF17
5 ectodermal dysplasia 9, hair/nail type 9.9 KRT74 DSG4
6 ectodermal dysplasia 7, hair/nail type 9.9 KRT74 DSG4
7 hypotrichosis simplex of the scalp 9.9 KRT74 CDSN
8 ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome 9.9 LIPH CDH15
9 woolly hair, autosomal dominant 9.8 LPAR6 LIPH KRT74
10 hypotrichosis 3 9.8 LPAR6 LIPH KRT74
11 naxos disease 9.7 LPAR6 DSG4
12 hypotrichosis 4 9.7 SNRPE LPAR6 LIPH KRT74
13 hypotrichosis 13 9.6 LPAR6 LIPH DSG4
14 hypotrichosis 2 9.5 LIPH CDSN
15 ectodermal dysplasia 4, hair/nail type 9.5 LPAR6 LIPH KRT74 DSG4
16 hypotrichosis 7 9.4 SNRPE LPAR6 LIPH KRT74 DSG4
17 hypotrichosis 6 9.4 SNRPE LPAR6 LIPH KRT74 DSG4
18 hypotrichosis, congenital, with juvenile macular dystrophy 9.1 LIPH KRT74 DSG4 CDSN CDH15
19 atrichia with papular lesions 9.1 LPAR6 LIPH KRT74 DSG4 CDSN
20 familial woolly hair syndrome 9.1 LPAR6 LIPH KRT74 DSG4 CDSN
21 monilethrix 9.1 LPAR6 LIPH KRT74 DSG4 CDSN
22 t-cell immunodeficiency, congenital alopecia, and nail dystrophy 9.0 LPAR6 LIPH DSG4 CDSN CDH15
23 hypotrichosis simplex 9.0 SNRPE LPAR6 LOC112577531 LIPH DSG4 CDSN
24 hair disease 8.8 LPAR6 LIPH KRT74 DSG4 DCAF17 CDSN
25 hypotrichosis 8 8.7 SNRPE LPAR6 LIPH KRT74 DSG4 CDSN
26 hypotrichosis 8.5 SNRPE LPAR6 LOC112577531 LIPH KRT74 DSG4

Graphical network of the top 20 diseases related to Hypotrichosis 11:



Diseases related to Hypotrichosis 11

Symptoms & Phenotypes for Hypotrichosis 11

Human phenotypes related to Hypotrichosis 11:

31
# Description HPO Frequency HPO Source Accession
1 alopecia 31 HP:0001596
2 aplasia/hypoplasia of the eyebrow 31 HP:0100840
3 sparse hair 31 HP:0008070
4 absent axillary hair 31 HP:0002221
5 sparse or absent eyelashes 31 HP:0200102

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skin Nails Hair Hair:
absent axillary hair
sparse or absent eyelashes
sparse or absent eyebrows
absent body hair
hypotrichosis or alopecia
more
Head And Neck Head:
hypotrichosis or alopecia

Head And Neck Eyes:
sparse or absent eyelashes
sparse or absent eyebrows

Clinical features from OMIM®:

615059 (Updated 05-Apr-2021)

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

Articles related to Hypotrichosis 11:

# Title Authors PMID Year
1
Mutations in SNRPE, which encodes a core protein of the spliceosome, cause autosomal-dominant hypotrichosis simplex. 57 6
23246290 2013
2
Hereditary hypotrichosis simplex. 6 57
9621144 1998

Variations for Hypotrichosis 11

ClinVar genetic disease variations for Hypotrichosis 11:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LOC112577531 , SNRPE NM_003094.4(SNRPE):c.1A>G (p.Met1Val) SNV Pathogenic 39505 rs587776924 GRCh37: 1:203830788-203830788
GRCh38: 1:203861660-203861660
2 SNRPE NM_003094.4(SNRPE):c.133G>A (p.Gly45Ser) SNV Pathogenic 39506 rs587776925 GRCh37: 1:203832842-203832842
GRCh38: 1:203863714-203863714

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

72
# Symbol AA change Variation ID SNP ID
1 SNRPE p.Gly45Ser VAR_069619 rs587776925

Expression for Hypotrichosis 11

Search GEO for disease gene expression data for Hypotrichosis 11.

Pathways for Hypotrichosis 11

Pathways related to Hypotrichosis 11 according to GeneCards Suite gene sharing:

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

GO Terms for Hypotrichosis 11

Cellular components related to Hypotrichosis 11 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 11 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 keratinocyte differentiation GO:0030216 9.16 DSG4 CDSN
2 cell-cell adhesion GO:0098609 9.13 DSG4 CDSN CDH15
3 cornification GO:0070268 8.8 KRT74 DSG4 CDSN

Sources for Hypotrichosis 11

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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