HYPT11
MCID: HYP528
MIFTS: 28

Hypotrichosis 11 (HYPT11)

Categories: Eye diseases, Genetic diseases, Oral diseases, Rare diseases
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Aliases & Classifications for Hypotrichosis 11

MalaCards integrated aliases for Hypotrichosis 11:

Name: Hypotrichosis 11 57 11 73 28 5 14 71
Hypt11 57 11 73
Hypotrichosis, Type 11 38

Characteristics:


Inheritance:

Autosomal dominant 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
intrafamilial variability in degree of hypotrichosis


Classifications:



External Ids:

Disease Ontology 11 DOID:0110708
OMIM® 57 615059
OMIM Phenotypic Series 57 PS605389
MeSH 43 D007039
SNOMED-CT via HPO 69 53602002 56558005 86166000
UMLS 71 C3554409

Summaries for Hypotrichosis 11

UniProtKB/Swiss-Prot: 73 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 hypotrichosis 1 and woolly hair, autosomal recessive 3. 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 sparse hair and alopecia universalis

Disease Ontology: 11 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 27)
# Related Disease Score Top Affiliating Genes
1 hypotrichosis 1 10.1 LIPH KRT74
2 woolly hair, autosomal recessive 3 9.9 LPAR6 LIPH
3 alopecia 9.9 RIN2 RBM28 DCAF17
4 ectodermal dysplasia 6, hair/nail type 9.9 KRT74 DSG4
5 ectodermal dysplasia 5, hair/nail type 9.8 KRT74 DSG4
6 hypotrichosis simplex of the scalp 9.8 KRT74 CDSN
7 woolly hair, autosomal dominant 9.8 LPAR6 LIPH KRT74
8 ectodermal dysplasia 7, hair/nail type 9.8 KRT74 DSG4
9 hypotrichosis 3 9.8 LPAR6 LIPH KRT74
10 woodhouse-sakati syndrome 9.8 RBM28 DCAF17
11 alopecia, neurologic defects, and endocrinopathy syndrome 9.7 SNRPE RIN2 RBM28 DCAF17
12 hypotrichosis 4 9.7 SNRPE LPAR6 LIPH KRT74
13 hypotrichosis simplex 9.5 SNRPE LPAR6 LIPH DSG4
14 ectodermal dysplasia 4, hair/nail type 9.5 LPAR6 LIPH KRT74 DSG4
15 ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome 9.4 DSG4 CDSN CDH15
16 hypotrichosis 6 9.4 SNRPE LPAR6 LIPH KRT74 DSG4
17 atrichia with papular lesions 9.1 LPAR6 LIPH KRT74 DSG4 CDSN
18 familial woolly hair syndrome 9.1 LPAR6 LIPH KRT74 DSG4 CDSN
19 monilethrix 9.1 LPAR6 LIPH KRT74 DSG4 CDSN
20 t-cell immunodeficiency, congenital alopecia, and nail dystrophy 9.0 LPAR6 LIPH DSG4 CDSN CDH15
21 hypotrichosis, congenital, with juvenile macular dystrophy 9.0 LPAR6 LIPH DSG4 CDSN CDH15
22 hypotrichosis 7 9.0 SNRPE LPAR6 LIPH KRT74 DSG4 CDSN
23 hypotrichosis 13 9.0 SNRPE LPAR6 LIPH KRT74 DSG4 CDSN
24 hair disease 8.9 LPAR6 LIPH KRT74 DSG4 DCAF17 CDSN
25 hypotrichosis 2 8.9 LPAR6 LIPH KRT74 DSG4 CDSN CDH15
26 hypotrichosis 8.8 SNRPE LPAR6 LIPH KRT74 DSG4 DCAF17
27 hypotrichosis 8 8.5 SNRPE RBM28 LPAR6 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:

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sparse hair 30 Very rare (1%) HP:0008070
2 alopecia universalis 30 Very rare (1%) HP:0002289
3 aplasia/hypoplasia of the eyebrow 30 HP:0100840
4 absent axillary hair 30 HP:0002221
5 sparse or absent eyelashes 30 HP:0200102

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 08-Dec-2022)

GenomeRNAi Phenotypes related to Hypotrichosis 11 according to GeneCards Suite gene sharing:

25 (show all 21)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.68 SNRPE
2 Increased shRNA abundance (Z-score > 2) GR00366-A-116 9.68 LIPH
3 Increased shRNA abundance (Z-score > 2) GR00366-A-122 9.68 LIPH
4 Increased shRNA abundance (Z-score > 2) GR00366-A-132 9.68 RIN2 SNRPE
5 Increased shRNA abundance (Z-score > 2) GR00366-A-15 9.68 LIPH
6 Increased shRNA abundance (Z-score > 2) GR00366-A-153 9.68 SNRPE
7 Increased shRNA abundance (Z-score > 2) GR00366-A-16 9.68 SNRPE
8 Increased shRNA abundance (Z-score > 2) GR00366-A-191 9.68 LIPH
9 Increased shRNA abundance (Z-score > 2) GR00366-A-193 9.68 RIN2
10 Increased shRNA abundance (Z-score > 2) GR00366-A-195 9.68 RIN2
11 Increased shRNA abundance (Z-score > 2) GR00366-A-21 9.68 LIPH
12 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.68 RIN2
13 Increased shRNA abundance (Z-score > 2) GR00366-A-216 9.68 LIPH SNRPE
14 Increased shRNA abundance (Z-score > 2) GR00366-A-35 9.68 LIPH
15 Increased shRNA abundance (Z-score > 2) GR00366-A-4 9.68 SNRPE
16 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.68 LIPH
17 Increased shRNA abundance (Z-score > 2) GR00366-A-48 9.68 RIN2
18 Increased shRNA abundance (Z-score > 2) GR00366-A-53 9.68 SNRPE
19 Increased shRNA abundance (Z-score > 2) GR00366-A-75 9.68 LIPH
20 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.68 RIN2
21 Increased shRNA abundance (Z-score > 2) GR00366-A-90 9.68 SNRPE

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 28 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 5
23246290 2013
2
Hereditary hypotrichosis simplex. 57 5
9621144 1998

Variations for Hypotrichosis 11

ClinVar genetic disease variations for Hypotrichosis 11:

5
# 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:

73
# 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
11.34 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 desmosome GO:0030057 8.8 DSG4 CDSN

Biological processes related to Hypotrichosis 11 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell-cell adhesion GO:0098609 8.92 DSG4 CDSN CDH15

Sources for Hypotrichosis 11

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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