MUHH
MCID: MRN005
MIFTS: 26

Marie Unna Congenital Hypotrichosis (MUHH)

Categories: Eye diseases, Rare diseases, Skin diseases

Aliases & Classifications for Marie Unna Congenital Hypotrichosis

MalaCards integrated aliases for Marie Unna Congenital Hypotrichosis:

Name: Marie Unna Congenital Hypotrichosis 20 58 6 70
Marie Unna Hereditary Hypotrichosis 20 58
Hypotrichosis, Marie Unna Type 20 58
Muhh 20 58
Marie-Unna Hereditary Hypotrichosis 36

Characteristics:

Orphanet epidemiological data:

58
marie unna hereditary hypotrichosis
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

KEGG 36 H00858
MESH via Orphanet 45 C535912
ICD10 via Orphanet 33 Q84.0
UMLS via Orphanet 71 C2931059
Orphanet 58 ORPHA444
SNOMED-CT via HPO 68 278040002 48610005 56317004
UMLS 70 C2931059

Summaries for Marie Unna Congenital Hypotrichosis

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 444 Definition 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. Epidemiology Prevalence and incidence are unknown. Clinical description Affected 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. Etiology MUHH 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 methods Diagnosis 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 diagnosis Differential diagnoses include hypotrichosis simplex, loose anagen syndrome, uncombable hair syndrome, ectodermal dysplasia syndromes (see these terms), congenital atrichia, androgenetic alopecia and alopecia areata. Antenatal diagnosis Antenatal 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 counseling There is a 50% recurrence risk for offspring of affected individuals as transmission is autosomal dominant. Management and treatment No curative treatment exists for MUHH. Prognosis Life expectancy is normal but quality of life can be reduced due to the psychological impact related to the hair phenotype.

MalaCards based summary : Marie Unna Congenital Hypotrichosis, also known as marie unna hereditary hypotrichosis, is related to hypotrichosis and hypotrichosis 5. An important gene associated with Marie Unna Congenital Hypotrichosis is HR (HR Lysine Demethylase And Nuclear Receptor Corepressor). Related phenotypes are coarse hair and alopecia

KEGG : 36 Marie Unna hereditary hypotrichosis (MUHH) is an autosomal dominant form of hereditary hair loss. It is characterized by sparse or absent scalp hair, eyebrows, and eyelashes at birth. Coarse and wiry hair is progressively lost in this disease. Responsive mutations are found in U2HR, an inhibitory upstream open reading frame in the 5'-untranslated region of the HR gene. Recently, a missense mutation of EPS8L3 in MUHH has been identified.

Related Diseases for Marie Unna Congenital Hypotrichosis

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

(show all 16)
# Related Disease Score Top Affiliating Genes
1 hypotrichosis 29.6 HR EPS8L3
2 hypotrichosis 5 12.0
3 hypotrichosis 4 11.5
4 pili torti, early-onset 10.6
5 pili torti 10.6
6 erythrokeratoderma ''en cocardes'' 10.4
7 alopecia universalis congenita 10.2
8 alopecia, congenital 10.2
9 brooke-spiegler syndrome 10.2
10 hypotrichosis 1 10.2
11 hypotrichosis 13 10.2
12 familial woolly hair syndrome 10.2
13 hypotrichosis simplex 10.2
14 macular degeneration, age-related, 1 10.2
15 alopecia areata 10.2
16 alopecia 10.2

Graphical network of the top 20 diseases related to Marie Unna Congenital Hypotrichosis:



Diseases related to Marie Unna Congenital Hypotrichosis

Symptoms & Phenotypes for Marie Unna Congenital Hypotrichosis

Human phenotypes related to Marie Unna Congenital Hypotrichosis:

58 31
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 coarse hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0002208
2 alopecia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001596
3 sparse scalp hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0002209
4 aplasia/hypoplasia of the eyebrow 58 31 hallmark (90%) Very frequent (99-80%) HP:0100840
5 sparse or absent eyelashes 58 31 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

Publications for Marie Unna Congenital Hypotrichosis

Articles related to Marie Unna Congenital Hypotrichosis:

(show all 22)
# Title Authors PMID Year
1
Exome sequencing identified a missense mutation of EPS8L3 in Marie Unna hereditary hypotrichosis. 61 6
23099647 2012
2
Marie Unna hereditary hypotrichosis: identification of a U2HR mutation in the family from the original 1925 report. 6 61
20659777 2011
3
Marie Unna hereditary hypotrichosis: a Turkish family with loss of eyebrows and a U2HR mutation. 6 61
20814945 2010
4
Overexpression of Hr links excessive induction of Wnt signaling to Marie Unna hereditary hypotrichosis. 6 61
19897589 2010
5
Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis. 6 61
19122663 2009
6
Marie Unna hereditary hypotrichosis: report of a Chinese family and evidence for genetic heterogeneity. 61 6
15347323 2004
7
Translation matters: protein synthesis defects in inherited disease. 6
17680008 2007
8
A distinct gene close to the hairless locus on chromosome 8p underlies hereditary Marie Unna type hypotrichosis in a German family. 6
11069461 2000
9
Linkage of Marie-Unna hypotrichosis locus to chromosome 8p21 and exclusion of 10 genes including the hairless gene by mutation analysis. 6
10854110 2000
10
Marie Unna hereditary hypotrichosis gene maps to human chromosome 8p21 near hairless. 6
10777357 2000
11
Marie Unna hereditary hypotrichosis accompanied by multiple familial trichoepithelioma in a Chinese family. 61
30809827 2019
12
Poly(rC) binding protein 2 acts as a negative regulator of IRES-mediated translation of Hr mRNA. 61
29422543 2018
13
Identification of mutations in U2HR in two Chinese families with Marie Unna hereditary hypotrichosis. 61
26269244 2016
14
Identification of a novel U2HR mutation in a Korean woman with Marie Unna hereditary hypotrichosis. 61
24961381 2014
15
Increased expression of Dkk1 by HR is associated with alteration of hair cycle in hairpoor mice. 61
24447645 2014
16
Marie Unna hereditary hypotrichosis: a recurrent c.74C>T mutation in the U2HR gene and literature review. 61
24261346 2014
17
Identification of a novel U2HR mutation c.14C>T in a Chinese patient with Marie Unna hereditary hypotrichosis. 61
22155146 2012
18
Identification of a U2HR gene mutation in Turkish families with Marie Unna hereditary hypotrichosis. 61
20055871 2009
19
A novel mutation in Hr causes abnormal hair follicle morphogenesis in hairpoor mouse, an animal model for Marie Unna Hereditary Hypotrichosis. 61
19513791 2009
20
Identification of a novel locus for Marie Unna hereditary hypotrichosis to a 17.5 cM interval at 1p21.1-1q21.3. 61
16185270 2005
21
Refinement of a locus for Marie Unna hereditary hypotrichosis to a 1.1-cM interval at 8p21.3. 61
15149494 2004
22
Marie Unna congenital hypotrichosis: clinical description, histopathology, scanning electron microscopy of a previously unreported large pedigree. 61
10674378 1999

Variations for Marie Unna Congenital Hypotrichosis

ClinVar genetic disease variations for Marie Unna Congenital Hypotrichosis:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 HR NM_005144.4(HR):c.-320T>C SNV Pathogenic 7341 rs387906382 GRCh37: 8:21988220-21988220
GRCh38: 8:22130707-22130707
2 HR NM_005144.4(HR):c.-315C>T SNV Pathogenic 7342 rs267606867 GRCh37: 8:21988215-21988215
GRCh38: 8:22130702-22130702
3 HR NM_005144.4(HR):c.-249C>G SNV Pathogenic 7343 rs267606868 GRCh37: 8:21988149-21988149
GRCh38: 8:22130636-22130636
4 HR NM_005144.4(HR):c.-218A>G SNV Pathogenic 7344 rs267606869 GRCh37: 8:21988118-21988118
GRCh38: 8:22130605-22130605
5 HR NM_005144.5(HR):c.-319G>A SNV Pathogenic 830233 GRCh37: 8:21988219-21988219
GRCh38: 8:22130706-22130706
6 EPS8L3 NM_133181.4(EPS8L3):c.22G>A (p.Ala8Thr) SNV Uncertain significance 830234 GRCh37: 1:110304350-110304350
GRCh38: 1:109761728-109761728

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 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
Content
Loading form....