HYPT5
MCID: HYP573
MIFTS: 20

Hypotrichosis 5 (HYPT5)

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

Aliases & Classifications for Hypotrichosis 5

MalaCards integrated aliases for Hypotrichosis 5:

Name: Hypotrichosis 5 57 12 72 6 70
Marie Unna Hereditary Hypotrichosis 2 57 12 72 13
Hypt5 57 12 72
Muhh2 57 12 72
Marie Unna Hereditary Hypotrichosis 2; Muhh2 57

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
based on one 4-generation chinese family (last curated july 2017)


HPO:

31
hypotrichosis 5:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110702
OMIM® 57 612841
OMIM Phenotypic Series 57 PS605389
MeSH 44 D007039
MedGen 41 C2748535
SNOMED-CT via HPO 68 263681008 278040002 56317004
UMLS 70 C2748535

Summaries for Hypotrichosis 5

OMIM® : 57 Hypotrichosis-5 (HYPT5), also known as Marie Unna hereditary hypotrichosis-2 (MUHH2), is a form of hereditary hypotrichosis characterized by twisting hair. Affected individuals have little or no scalp hair at birth, wiry and irregular scalp hair in childhood, and sparse or no forehead and parietal hair at puberty. Eyebrows and eyelashes are thin, and pubic and axillary hair fails to develop. Scarring alopecia is modest, and vertex hair is normal (summary by Zhang et al., 2012). For a general phenotypic description of Marie Unna hereditary hypotrichosis, see MUHH1 (146550). For a discussion of genetic heterogeneity of nonsyndromic hypotrichosis, see 605389. (612841) (Updated 20-May-2021)

MalaCards based summary : Hypotrichosis 5, is also known as marie unna hereditary hypotrichosis 2. An important gene associated with Hypotrichosis 5 is MUHH2 (Hypotrichosis, Hereditary, Marie Unna Type, 2). Affiliated tissues include eye, and related phenotypes are alopecia and sparse eyelashes

Disease Ontology : 12 A hypotrichosis that has material basis in a mutation on chromosome 1p21.1-q21.3.

UniProtKB/Swiss-Prot : 72 Hypotrichosis 5: 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. HYPT5 is an autosomal dominant form characterized by little or no scalp hair at birth, wiry and irregular scalp hair in childhood, and sparse or no forehead and parietal hair at puberty. Eyebrows and eyelashes are thin, and pubic and axillary hair fails to develop. Scarring alopecia is modest, and vertex hair is normal.

Related Diseases for Hypotrichosis 5

Symptoms & Phenotypes for Hypotrichosis 5

Human phenotypes related to Hypotrichosis 5:

31
# Description HPO Frequency HPO Source Accession
1 alopecia 31 HP:0001596
2 sparse eyelashes 31 HP:0000653
3 absent axillary hair 31 HP:0002221
4 absent pubic hair 31 HP:0002555
5 thin eyebrow 31 HP:0045074

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skin Nails Hair Hair:
absent axillary hair
absent pubic hair
thin eyelashes
thin eyebrows
sparse or absent scalp hair at birth
more
Head And Neck Teeth:
normal teeth

Head And Neck Ears:
normal hearing

Skin Nails Hair Nails:
normal nails

Skin Nails Hair Skin:
normal sweating
marked reduction of mature hair follicles

Head And Neck Eyes:
thin eyelashes
thin eyebrows

Clinical features from OMIM®:

612841 (Updated 20-May-2021)

Drugs & Therapeutics for Hypotrichosis 5

Search Clinical Trials , NIH Clinical Center for Hypotrichosis 5

Genetic Tests for Hypotrichosis 5

Anatomical Context for Hypotrichosis 5

MalaCards organs/tissues related to Hypotrichosis 5:

40
Eye

Publications for Hypotrichosis 5

Articles related to Hypotrichosis 5:

# Title Authors PMID Year
1
Exome sequencing identified a missense mutation of EPS8L3 in Marie Unna hereditary hypotrichosis. 57 6
23099647 2012
2
Marie Unna hereditary hypotrichosis: report of a Chinese family and evidence for genetic heterogeneity. 57 6
15347323 2004
3
Identification of a novel locus for Marie Unna hereditary hypotrichosis to a 17.5 cM interval at 1p21.1-1q21.3. 57
16185270 2005

Variations for Hypotrichosis 5

ClinVar genetic disease variations for Hypotrichosis 5:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 EPS8L3 NM_133181.4(EPS8L3):c.22G>A (p.Ala8Thr) SNV Uncertain significance 830234 GRCh37: 1:110304350-110304350
GRCh38: 1:109761728-109761728

Expression for Hypotrichosis 5

Search GEO for disease gene expression data for Hypotrichosis 5.

Pathways for Hypotrichosis 5

GO Terms for Hypotrichosis 5

Sources for Hypotrichosis 5

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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