MCID: HYP578
MIFTS: 19

Hypotrichosis 12

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Hypotrichosis 12

MalaCards integrated aliases for Hypotrichosis 12:

Name: Hypotrichosis 12 57 12 75 29 6 73
Hypt12 57 12 75
Hypotrichosis, Type 12 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
hypotrichosis 12:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 615885
Disease Ontology 12 DOID:0110709
MeSH 44 D007039
SNOMED-CT via HPO 69 263681008 53602002 56558005
UMLS 73 C4014563

Summaries for Hypotrichosis 12

UniProtKB/Swiss-Prot : 75 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.

MalaCards based summary : Hypotrichosis 12, is also known as hypt12. An important gene associated with Hypotrichosis 12 is RPL21 (Ribosomal Protein L21). Affiliated tissues include skin, and related phenotypes are hypotrichosis and aplasia/hypoplasia of the eyebrow

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

Description from OMIM: 615885

Related Diseases for Hypotrichosis 12

Symptoms & Phenotypes for Hypotrichosis 12

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Hypotrichosis 12:

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

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

MalaCards organs/tissues related to Hypotrichosis 12:

41
Skin

Publications for Hypotrichosis 12

Variations for Hypotrichosis 12

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

75
# Symbol AA change Variation ID SNP ID
1 RPL21 p.Arg32Gln VAR_066030 rs587777527

ClinVar genetic disease variations for Hypotrichosis 12:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 RPL21 NM_000982.3(RPL21): c.95G> A (p.Arg32Gln) single nucleotide variant Pathogenic rs587777527 GRCh37 Chromosome 13, 27828384: 27828384
2 RPL21 NM_000982.3(RPL21): c.95G> A (p.Arg32Gln) single nucleotide variant Pathogenic rs587777527 GRCh38 Chromosome 13, 27254247: 27254247

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 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
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