Hypertrichosis Universalis Congenita, Ambras Type disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Rare diseases Fetal diseases
Anatomical: Eye diseases Skin diseases

See all MalaCards categories (disease lists)

ICD10: ³² ³³

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other congenital malformations of integument

Other congenital malformations of hair

Orphanet: ⁵⁵

Rare eye diseases

Rare skin diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵³ 145701 307150

Disease Ontology ¹² DOID:0111060

ICD10 ³² Q84.2

MeSH ⁴¹ C536605

Orphanet ⁵⁵ ORPHA1023 ORPHA79495

MESH via Orphanet ⁴² C536605 C538388

UMLS via Orphanet ⁷⁰ C1840362 C2931836

ICD10 via Orphanet ³³ Q84.2

MedGen ³⁹ C1840362 C1855900

SNOMED-CT via HPO ⁶⁵ 263681008 399939002 111266001 more

UMLS ⁶⁹ C1855900 C1840362

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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...

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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
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:

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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

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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

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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

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Anatomical Context for Hypertrichosis Universalis Congenita, Ambras Type

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

³⁸

Skin, Eye

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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 )	Kim J....Lee K.A.	2010
2	A position effect on TRPS1 is associated with Ambras syndrome in humans and the Koala phenotype in mice. ( 18713754 )	Fantauzzo K.A....Christiano A.M.	2008
3	A hairy development in hypertrichosis: a brief review of Ambras syndrome. ( 18328202 )	Rashid R.M....White L.E.	2007
4	Ambras syndrome: report on two affected siblings with no prior family history. ( 15365467 )	Belengeanu V....Belengeanu A.	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 )	Tadin-Strapps M....Christiano A.M.	2004
6	Diagnosis of Ambras syndrome: comments on complex cytogenetic rearrangement of chromosome 8q in a case of Ambras syndrome. ( 11932999 )	Baumeister F.A.	2002
7	Complex cytogenetic rearrangement of chromosome 8q in a case of Ambras syndrome. ( 11471181 )	Tadin M....Warburton D.	2001
8	Differentiation of Ambras syndrome from Hypertrichosis Universalis. ( 10735640 )	Baumeister F.A.	2000
9	A new case of Ambras syndrome associated with a paracentric inversion (8) (q12; q22) ( 9712536 )	Balducci R....Boscherini B.	1998
10	Differentiation of congenital hypertrichosis from Ambras syndrome. ( 7889664 )	Baumeister F.A....Stengel-Rutkowski S.	1994
11	Ambras syndrome: delineation of a unique hypertrichosis universalis congenita and association with a balanced pericentric inversion (8) (p11.2; q22) ( 8275569 )	Baumeister F.A....Stengel-Rutkowski S.	1993

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Genes for Hypertrichosis Universalis Congenita, Ambras Type

Genes related to Hypertrichosis Universalis Congenita, Ambras Type (3 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Implication
1	HTC2	Hypertrichosis 2 (Generalized, Congenital)	Genetic Locus	500	Structural variation ⁵³
2	SOX3	SRY-Box 3	Protein Coding	350	Causative germline mutation ⁵⁵
3	HTC1	Hypertrichosis 1 (Universalis, Congenital)	Genetic Locus	50	Genetic linkage ⁵³
4	ITC1	Hypertrichosis Universalis Congenita, Ambras Type	Uncategorized	9.75	GeneCards inferred via : Gene name (show sections)

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Variations for Hypertrichosis Universalis Congenita, Ambras Type

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Expression for Hypertrichosis Universalis Congenita, Ambras Type

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

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Pathways for Hypertrichosis Universalis Congenita, Ambras Type

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GO Terms for Hypertrichosis Universalis Congenita, Ambras Type

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