HYPT12
MCID: HYP578
MIFTS: 19

Hypotrichosis 12 (HYPT12)

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

Aliases & Classifications for Hypotrichosis 12

MalaCards integrated aliases for Hypotrichosis 12:

Name: Hypotrichosis 12 57 12 72 29 6 70
Hypt12 57 12 72
Hypotrichosis, Type 12 39

Characteristics:

OMIM®:

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

Miscellaneous:
based on 2 unrelated chinese families (last curated july 2014).


HPO:

31
hypotrichosis 12:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110709
OMIM® 57 615885
OMIM Phenotypic Series 57 PS605389
MeSH 44 D007039
UMLS 70 C4014563

Summaries for Hypotrichosis 12

UniProtKB/Swiss-Prot : 72 Hypotrichosis 12: 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. HYPT12 patients have normal scalp hair density at birth. Hair loss begins during the first 6 months of life and gradually progresses to nearly complete loss of scalp hair. The remaining hairs grow slowly and are thin, sparse, dry, and fragile. Body hair, axillary and pubic hair, eyebrows and eyelashes are also sparse or absent. HYPT12 inheritance is autosomal dominant.

MalaCards based summary : Hypotrichosis 12, is also known as hypt12. An important gene associated with Hypotrichosis 12 is RPL21 (Ribosomal Protein L21). Related phenotypes are aplasia/hypoplasia of the eyebrow and sparse hair

Disease Ontology : 12 A hypotrichosis that has material basis in a autosomal dominant mutation of RPL21 on chromosome 13q12.2.

More information from OMIM: 615885 PS605389

Related Diseases for Hypotrichosis 12

Symptoms & Phenotypes for Hypotrichosis 12

Human phenotypes related to Hypotrichosis 12:

31
# Description HPO Frequency HPO Source Accession
1 aplasia/hypoplasia of the eyebrow 31 HP:0100840
2 sparse hair 31 HP:0008070
3 slow-growing hair 31 HP:0002217
4 sparse or absent eyelashes 31 HP:0200102
5 dry hair 31 HP:0011359

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
sparse or absent eyelashes
sparse or absent eyebrows

Skin Nails Hair Nails:
normal nails

Head And Neck Face:
normal beard hair

Head And Neck Head:
sparse or absent scalp hair

Skin Nails Hair Skin:
normal skin
normal sweating

Head And Neck Teeth:
normal teeth

Skin Nails Hair:
histology:

Skin Nails Hair Hair:
normal scalp hair density at birth
hair loss, progressive, after 2 to 6 months of age
slow-growing hair of normal length
thin, fragile, and dry hair
no hair regrowth
more

Clinical features from OMIM®:

615885 (Updated 05-Apr-2021)

Drugs & Therapeutics for Hypotrichosis 12

Search Clinical Trials , NIH Clinical Center for Hypotrichosis 12

Genetic Tests for Hypotrichosis 12

Genetic tests related to Hypotrichosis 12:

# Genetic test Affiliating Genes
1 Hypotrichosis 12 29 RPL21

Anatomical Context for Hypotrichosis 12

Publications for Hypotrichosis 12

Articles related to Hypotrichosis 12:

# Title Authors PMID Year
1
Mutation in ribosomal protein L21 underlies hereditary hypotrichosis simplex. 6 57
21412954 2011
2
A new locus for hereditary hypotrichosis simplex maps to chromosome 13q12.12 approximately 12.3 in a Chinese family. 6 57
19751230 2010
3
Ocular complications of autoimmune polyendocrinopathy syndrome type 1. 61
17189144 2006

Variations for Hypotrichosis 12

ClinVar genetic disease variations for Hypotrichosis 12:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RPL21 NM_000982.3(RPL21):c.95G>A (p.Arg32Gln) SNV Pathogenic 139638 rs587777527 GRCh37: 13:27828384-27828384
GRCh38: 13:27254247-27254247

UniProtKB/Swiss-Prot genetic disease variations for Hypotrichosis 12:

72
# Symbol AA change Variation ID SNP ID
1 RPL21 p.Arg32Gln VAR_066030 rs587777527

Expression for Hypotrichosis 12

Search GEO for disease gene expression data for Hypotrichosis 12.

Pathways for Hypotrichosis 12

GO Terms for Hypotrichosis 12

Sources for Hypotrichosis 12

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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