MCID: MRN005
MIFTS: 19

Marie Unna Congenital Hypotrichosis

Categories: Rare diseases, Skin diseases

Aliases & Classifications for Marie Unna Congenital Hypotrichosis

MalaCards integrated aliases for Marie Unna Congenital Hypotrichosis:

Name: Marie Unna Congenital Hypotrichosis 53 59 73
Marie Unna Hereditary Hypotrichosis 53 59
Hypotrichosis, Marie Unna Type 53 59
Muhh 53 59
Marie-Unna Hereditary Hypotrichosis 37

Characteristics:

Orphanet epidemiological data:

59
marie unna hereditary hypotrichosis
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

Classifications:

Orphanet: 59  
Rare skin diseases


External Ids:

Orphanet 59 ORPHA444
MESH via Orphanet 45 C535912
UMLS via Orphanet 74 C2931059
ICD10 via Orphanet 34 Q84.0
KEGG 37 H00858
SNOMED-CT via HPO 69 278040002 56317004 48610005
UMLS 73 C2931059

Summaries for Marie Unna Congenital Hypotrichosis

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 444Disease definitionMarie Unna hereditary hypotrichosis (MUHH) is a rare autosomal dominant hair loss disorder characterized by the absence or scarcity of scalp hair, eyebrows, and eyelashes at birth; coarse and wiry hair during childhood; and progressive hair loss beginning around puberty.EpidemiologyPrevalence and incidence are unknown.Clinical descriptionAffected individuals of both sexes are typically born with an absence or scarcity of scalp hair, eyelashes, and eyebrows. During early childhood the scalp hair becomes coarse and wiry. Loss of scalp hair begins around puberty in a pattern resembling that of androgenetic alopecia and progresses to almost total alopecia. Body, axillary, and pubic hair is sparse or absent as is beard hair in men and adolescent boys. No other ectodermal abnormalities are observed.EtiologyMUHH is due to mutations in U2HR, an inhibitory upstream open reading frame of the HR gene located to 8p21.2, causing a gain of function of HR. Worldwide, more than 15 different U2HR mutations have been identified in nearly 30 affected families and sporadic cases. Recently, a missense mutation in EPS8L3, located on chromosome 1p13.2, was identified in a Chinese family with MUHH.Diagnostic methodsDiagnosis depends on clinical and microscopic examination and can be confirmed by mutational analysis of U2HR. Scanning electron microscopic study of the hair reveals irregular twisting, longitudinal ridging and cuticle peeling. Scalp biopsy shows a marked reduction in the number of follicles with follicular fibrosis. However, the small number of biopsies analyzed makes it difficult to obtain an objective impression.Differential diagnosisDifferential diagnoses include hypotrichosis simplex, loose anagen syndrome, uncombable hair syndrome, ectodermal dysplasia syndromes (see these terms), congenital atrichia, androgenetic alopecia and alopecia areata.Antenatal diagnosisAntenatal diagnosis can be performed but is the exception, as MUHH is not a life-threatening disease. Therefore in practice, this is handled in quite a restrictive manner.Genetic counselingThere is a 50% recurrence risk for offspring of affected individuals as transmission is autosomal dominant.Management and treatmentNo curative treatment exists for MUHH.PrognosisLife expectancy is normal but quality of life can be reduced due to the psychological impact related to the hair phenotype.Visit the Orphanet disease page for more resources.

MalaCards based summary : Marie Unna Congenital Hypotrichosis, also known as marie unna hereditary hypotrichosis, is related to hypotrichosis and hypotrichosis 4. An important gene associated with Marie Unna Congenital Hypotrichosis is HR (HR, Lysine Demethylase And Nuclear Receptor Corepressor). Affiliated tissues include skin, and related phenotypes are alopecia and coarse hair

Related Diseases for Marie Unna Congenital Hypotrichosis

Diseases related to Marie Unna Congenital Hypotrichosis via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hypotrichosis 28.7 EPS8L3 HR
2 hypotrichosis 4 11.4

Symptoms & Phenotypes for Marie Unna Congenital Hypotrichosis

Human phenotypes related to Marie Unna Congenital Hypotrichosis:

59 32
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 alopecia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001596
2 coarse hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0002208
3 sparse scalp hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0002209
4 aplasia/hypoplasia of the eyebrow 59 32 hallmark (90%) Very frequent (99-80%) HP:0100840
5 sparse or absent eyelashes 59 32 hallmark (90%) Very frequent (99-80%) HP:0200102

MGI Mouse Phenotypes related to Marie Unna Congenital Hypotrichosis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 8.62 EPS8L3 HR

Drugs & Therapeutics for Marie Unna Congenital Hypotrichosis

Search Clinical Trials , NIH Clinical Center for Marie Unna Congenital Hypotrichosis

Genetic Tests for Marie Unna Congenital Hypotrichosis

Anatomical Context for Marie Unna Congenital Hypotrichosis

MalaCards organs/tissues related to Marie Unna Congenital Hypotrichosis:

41
Skin

Publications for Marie Unna Congenital Hypotrichosis

Articles related to Marie Unna Congenital Hypotrichosis:

# Title Authors Year
1
Marie Unna congenital hypotrichosis: clinical description, histopathology, scanning electron microscopy of a previously unreported large pedigree. ( 10674378 )
1999

Variations for Marie Unna Congenital Hypotrichosis

Expression for Marie Unna Congenital Hypotrichosis

Search GEO for disease gene expression data for Marie Unna Congenital Hypotrichosis.

Pathways for Marie Unna Congenital Hypotrichosis

GO Terms for Marie Unna Congenital Hypotrichosis

Sources for Marie Unna Congenital Hypotrichosis

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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