MCID: HYP351
MIFTS: 30

Hypertrichosis Universalis Congenita, Ambras Type

Categories: Rare diseases, Eye diseases, Skin diseases, Fetal diseases

Aliases & Classifications for Hypertrichosis Universalis Congenita, Ambras Type

MalaCards integrated aliases for Hypertrichosis Universalis Congenita, Ambras Type:

Name: Hypertrichosis Universalis Congenita, Ambras Type 53 13 69
Ambras Syndrome 53 12 72 49 55 41
Hypertrichosis, Congenital Generalized 53 13 69
Htc1 53 12
Congenital Generalized Hypertrichosis, Macias-Flores Type 55
Chromosome Xq27.1 Interchromosomal Insertion Syndrome 53
Congenital Generalized Hypertrichosis, Ambras Type 55
Ambras Type Hypertrichosis Universalis Congenita 12
Hypertrichosis Universalis Congenita Ambras Type 49
X-Linked Congenital Generalized Hypertrichosis 55
Macias Flores-Garcia Cruz-Rivera Syndrome 55
Congenital, Generalized Hypertrichosis 28
Htc 1 49
Htc2 53
Cgh 53
Hcg 53

Characteristics:

Orphanet epidemiological data:

55
congenital generalized hypertrichosis, ambras type
Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

53
Inheritance:
autosomal dominant


HPO:

31
hypertrichosis universalis congenita, ambras type:
Inheritance autosomal dominant inheritance

hypertrichosis, congenital generalized:
Inheritance x-linked dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111060
ICD10 32 Q84.2
MeSH 41 C536605
MESH via Orphanet 42 C536605 C538388
UMLS via Orphanet 70 C1840362 C2931836
ICD10 via Orphanet 33 Q84.2

Summaries for Hypertrichosis Universalis Congenita, Ambras Type

NIH Rare Diseases : 49 Ambras syndrome is a very rare type of hypertrichosis lanuginosa congenita, a congenital skin disease characterized by excessive hair growth on the entire body, with the exception of the palms, soles, and mucous membranes. Individuals with Ambras syndrome have excessive growth of vellus (soft, fine and short) hair, especially on the face, ears, and shoulders. Facial and dental abnormalities may also be present. Ambras syndrome has been mapped to the short (q) arm of chromosome 8. It appears to follow an autosomal dominant pattern of inheritance. Last updated: 10/23/2014

MalaCards based summary : Hypertrichosis Universalis Congenita, Ambras Type, also known as ambras syndrome, is related to gestational trophoblastic tumor and x-linked congenital generalized hypertrichosis, and has symptoms including congenital, generalized hypertrichosis, hirsutism and scoliosis. An important gene associated with Hypertrichosis Universalis Congenita, Ambras Type is HTC2 (Hypertrichosis 2 (Generalized, Congenital)). Affiliated tissues include skin and eye.

OMIM : 53 Hypertrichosis is defined as hair growth that is excessive for a particular site of the body or age of the patient and that is not hormone-dependent (summary by Fantauzzo et al., 2012). (145701)

Disease Ontology : 12 A hypertrichosis characterized by autosomal dominant inheritance of the presence of vellus-type hair on the entire body, especially on the face, ears and shoulders, with the exception of palms, soles, and mucous membranes that has material basis in chromosomal abnormalities in the region 8q22.

Wikipedia : 72 Hypertrichosis is an abnormal amount of hair growth over the body. The two distinct types of... more...

Related Diseases for Hypertrichosis Universalis Congenita, Ambras Type

Diseases related to Hypertrichosis Universalis Congenita, Ambras Type via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 gestational trophoblastic tumor 11.6
2 x-linked congenital generalized hypertrichosis 11.5
3 peroxisome biogenesis disorder 11a 11.5
4 chromosome 15q24 deletion syndrome 11.1
5 hypertrichosis, congenital generalized, with or without gingival hyperplasia 11.0
6 hypertrichosis 10.3

Graphical network of the top 20 diseases related to Hypertrichosis Universalis Congenita, Ambras Type:



Diseases related to Hypertrichosis Universalis Congenita, Ambras Type

Symptoms & Phenotypes for Hypertrichosis Universalis Congenita, Ambras Type

Symptoms via clinical synopsis from OMIM:

53
Hair:
persistent generalized hypertrichosis, esp. face, ears, and shoulders


Clinical features from OMIM:

145701 307150

Human phenotypes related to Hypertrichosis Universalis Congenita, Ambras Type:

31
# Description HPO Frequency HPO Source Accession
1 congenital, generalized hypertrichosis 31 HP:0004540
2 hirsutism 31 HP:0001007
3 scoliosis 31 occasional (7.5%) HP:0002650

Drugs & Therapeutics for Hypertrichosis Universalis Congenita, Ambras Type

Search Clinical Trials , NIH Clinical Center for Hypertrichosis Universalis Congenita, Ambras Type

Cochrane evidence based reviews: ambras syndrome

Genetic Tests for Hypertrichosis Universalis Congenita, Ambras Type

Genetic tests related to Hypertrichosis Universalis Congenita, Ambras Type:

# Genetic test Affiliating Genes
1 Congenital, Generalized Hypertrichosis 28

Anatomical Context for Hypertrichosis Universalis Congenita, Ambras Type

MalaCards organs/tissues related to Hypertrichosis Universalis Congenita, Ambras Type:

38
Skin, Eye

Publications for Hypertrichosis Universalis Congenita, Ambras Type

Articles related to Hypertrichosis Universalis Congenita, Ambras Type:

(show all 11)
# Title Authors Year
1
Ambras syndrome in a Korean patient with balanced pericentric inversion (8)(p11.2q24.2). ( 20696554 )
2010
2
A position effect on TRPS1 is associated with Ambras syndrome in humans and the Koala phenotype in mice. ( 18713754 )
2008
3
A hairy development in hypertrichosis: a brief review of Ambras syndrome. ( 18328202 )
2007
4
Ambras syndrome: report on two affected siblings with no prior family history. ( 15365467 )
2004
5
Cloning of the breakpoints of a de novo inversion of chromosome 8, inv (8)(p11.2q23.1) in a patient with Ambras syndrome. ( 15305058 )
2004
6
Diagnosis of Ambras syndrome: comments on complex cytogenetic rearrangement of chromosome 8q in a case of Ambras syndrome. ( 11932999 )
2002
7
Complex cytogenetic rearrangement of chromosome 8q in a case of Ambras syndrome. ( 11471181 )
2001
8
Differentiation of Ambras syndrome from Hypertrichosis Universalis. ( 10735640 )
2000
9
A new case of Ambras syndrome associated with a paracentric inversion (8) (q12; q22) ( 9712536 )
1998
10
Differentiation of congenital hypertrichosis from Ambras syndrome. ( 7889664 )
1994
11
Ambras syndrome: delineation of a unique hypertrichosis universalis congenita and association with a balanced pericentric inversion (8) (p11.2; q22) ( 8275569 )
1993

Variations for Hypertrichosis Universalis Congenita, Ambras Type

Expression for Hypertrichosis Universalis Congenita, Ambras Type

Search GEO for disease gene expression data for Hypertrichosis Universalis Congenita, Ambras Type.

Pathways for Hypertrichosis Universalis Congenita, Ambras Type

GO Terms for Hypertrichosis Universalis Congenita, Ambras Type

Sources for Hypertrichosis Universalis Congenita, Ambras Type

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70 UMLS via Orphanet
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