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 57 13 73
Ambras Syndrome 57 12 76 53 59 44
Hypertrichosis, Congenital Generalized 57 13 73
Htc1 57 12
Congenital Generalized Hypertrichosis, Macias-Flores Type 59
Chromosome Xq27.1 Interchromosomal Insertion Syndrome 57
Congenital Generalized Hypertrichosis, Ambras Type 59
Ambras Type Hypertrichosis Universalis Congenita 12
Hypertrichosis Universalis Congenita Ambras Type 53
X-Linked Congenital Generalized Hypertrichosis 59
Macias Flores-Garcia Cruz-Rivera Syndrome 59
Congenital, Generalized Hypertrichosis 29
Htc 1 53
Htc2 57
Cgh 57
Hcg 57

Characteristics:

Orphanet epidemiological data:

59
congenital generalized hypertrichosis, ambras type
Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
hypertrichosis universalis congenita, ambras type:
Inheritance autosomal dominant inheritance

hypertrichosis, congenital generalized:
Inheritance x-linked inheritance x-linked dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111060
ICD10 33 Q84.2
MeSH 44 C536605
MESH via Orphanet 45 C536605 C538388
ICD10 via Orphanet 34 Q84.2
UMLS via Orphanet 74 C1840362 C2931836

Summaries for Hypertrichosis Universalis Congenita, Ambras Type

NIH Rare Diseases : 53 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.

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

OMIM : 57 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 : 76 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 hypertrichosis 28.6 HTC2 SOX3
2 gestational trophoblastic tumor 11.6
3 x-linked congenital generalized hypertrichosis 11.5
4 peroxisome biogenesis disorder 11a 11.5
5 chromosome 15q24 deletion syndrome 11.1
6 hypertrichosis, congenital generalized, with or without gingival hyperplasia 11.0
7 gingivitis 9.9

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:

57
Hair:
persistent generalized hypertrichosis, esp. face, ears, and shoulders


Clinical features from OMIM:

145701 307150

Human phenotypes related to Hypertrichosis Universalis Congenita, Ambras Type:

32
# Description HPO Frequency HPO Source Accession
1 congenital, generalized hypertrichosis 32 HP:0004540
2 hirsutism 32 HP:0001007
3 scoliosis 32 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 29

Anatomical Context for Hypertrichosis Universalis Congenita, Ambras Type

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

41
Skin, Eye

Publications for Hypertrichosis Universalis Congenita, Ambras Type

Articles related to Hypertrichosis Universalis Congenita, Ambras Type:

(show all 12)
# Title Authors Year
1
Ambras Syndrome with Gingival Hyperplasia: A Rare Entity. ( 27601862 )
2016
2
Ambras syndrome in a Korean patient with balanced pericentric inversion (8)(p11.2q24.2). ( 20696554 )
2010
3
A position effect on TRPS1 is associated with Ambras syndrome in humans and the Koala phenotype in mice. ( 18713754 )
2008
4
A hairy development in hypertrichosis: a brief review of Ambras syndrome. ( 18328202 )
2007
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
Ambras syndrome: report on two affected siblings with no prior family history. ( 15365467 )
2004
7
Diagnosis of Ambras syndrome: comments on complex cytogenetic rearrangement of chromosome 8q in a case of Ambras syndrome. ( 11932999 )
2002
8
Complex cytogenetic rearrangement of chromosome 8q in a case of Ambras syndrome. ( 11471181 )
2001
9
Differentiation of Ambras syndrome from Hypertrichosis Universalis. ( 10735640 )
2000
10
A new case of Ambras syndrome associated with a paracentric inversion (8) (q12; q22) ( 9712536 )
1998
11
Differentiation of congenital hypertrichosis from Ambras syndrome. ( 7889664 )
1994
12
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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17 ExPASy
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62 PubMed
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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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