CGH
MCID: HYP351
MIFTS: 46

Hypertrichosis Universalis Congenita, Ambras Type (CGH)

Categories: Ear diseases, Fetal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Hypertrichosis Universalis Congenita, Ambras Type

MalaCards integrated aliases for Hypertrichosis Universalis Congenita, Ambras Type:

Name: Hypertrichosis Universalis Congenita, Ambras Type 58 13 74
Ambras Syndrome 58 12 77 54 60 45
Hypertrichosis, Congenital Generalized 58 13 74
Ambras Type Hypertrichosis Universalis Congenita 12 15
Htc1 58 12
Congenital Generalized Hypertrichosis, Macias-Flores Type 60
Chromosome Xq27.1 Interchromosomal Insertion Syndrome 58
Congenital Generalized Hypertrichosis, Ambras Type 60
Hypertrichosis Universalis Congenita Ambras Type 54
X-Linked Congenital Generalized Hypertrichosis 60
Macias Flores-Garcia Cruz-Rivera Syndrome 60
Congenital, Generalized Hypertrichosis 30
Htc 1 54
Htc2 58
Cgh 58
Hcg 58

Characteristics:

Orphanet epidemiological data:

60
congenital generalized hypertrichosis, ambras type
Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
hypertrichosis, congenital generalized:
Inheritance x-linked inheritance x-linked dominant inheritance

hypertrichosis universalis congenita, ambras type:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111060
MeSH 45 C536605
ICD10 34 Q84.2
MESH via Orphanet 46 C536605 C538388
ICD10 via Orphanet 35 Q84.2
UMLS via Orphanet 75 C1840362 C2931836

Summaries for Hypertrichosis Universalis Congenita, Ambras Type

NIH Rare Diseases : 54 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 mature teratoma and suppressor of tumorigenicity 3. An important gene associated with Hypertrichosis Universalis Congenita, Ambras Type is HTC2 (Hypertrichosis 2 (Generalized, Congenital)), and among its related pathways/superpathways are C-MYB transcription factor network and superpathway of methionine degradation. Affiliated tissues include skin, and related phenotypes are scoliosis and hirsutism

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.

OMIM : 58 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)

Wikipedia : 77 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:

(show top 50) (show all 420)
# Related Disease Score Top Affiliating Genes
1 mature teratoma 29.4 TP53 TG
2 suppressor of tumorigenicity 3 29.2 TP53 MYC
3 small cell cancer of the lung 29.1 TP53 SOX3 MYC
4 thyroid cancer 27.9 TP53 TG TCIM MYC
5 gestational trophoblastic tumor 11.7
6 peroxisome biogenesis disorder 11a 11.7
7 x-linked congenital generalized hypertrichosis 11.5
8 chromosome 15q24 deletion syndrome 11.3
9 hypertrichosis lanuginosa congenita 11.3
10 pediatric cns choriocarcinoma 11.2
11 hypertrichosis, congenital generalized, with or without gingival hyperplasia 11.2
12 perrault syndrome 1 11.1
13 placental site trophoblastic tumor 11.1
14 ovarian mucinous adenofibroma 11.1
15 ovarian clear cell malignant adenofibroma 11.1
16 mesomelic dysplasia, kantaputra type 11.0
17 mesomelia-synostoses syndrome 11.0
18 potocki-lupski syndrome 11.0
19 chromosome 2p16.1-p15 deletion syndrome 11.0
20 peroxisome biogenesis disorder 11b 11.0
21 16p13.11 microduplication syndrome 11.0
22 19p13.12 microdeletion syndrome 11.0
23 1q44 microdeletion syndrome 11.0
24 20p12.3 microdeletion syndrome 11.0
25 8p inverted duplication/deletion syndrome 11.0
26 chromosome 6q25 microdeletion syndrome 11.0
27 ectopic pregnancy 10.6
28 choriocarcinoma 10.5
29 hypertrichosis 10.4
30 ovarian hyperstimulation syndrome 10.3
31 seminoma 10.3
32 hypogonadism 10.3
33 hydatidiform mole, recurrent, 1 10.3
34 gestational trophoblastic neoplasm 10.3
35 hypogonadotropic hypogonadism 10.3
36 testicular cancer 10.2
37 hypogonadotropism 10.2
38 cryptorchidism, unilateral or bilateral 10.2
39 pre-eclampsia 10.2
40 infertility 10.2
41 alacrima, achalasia, and mental retardation syndrome 10.2
42 leukemia 10.2
43 germinoma 10.1
44 precocious puberty 10.1
45 breast cancer 10.1
46 lymphoma 10.1
47 chromosomal triplication 10.1
48 eclampsia 10.1
49 teratoma 10.1
50 lymphocytic leukemia 10.1

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

Human phenotypes related to Hypertrichosis Universalis Congenita, Ambras Type:

33
# Description HPO Frequency HPO Source Accession
1 scoliosis 33 occasional (7.5%) HP:0002650
2 hirsutism 33 HP:0001007
3 congenital, generalized hypertrichosis 33 HP:0004540

Symptoms via clinical synopsis from OMIM:

58
Hair:
persistent generalized hypertrichosis, esp. face, ears, and shoulders

Clinical features from OMIM:

145701 307150

GenomeRNAi Phenotypes related to Hypertrichosis Universalis Congenita, Ambras Type according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased cell number GR00098-A-1 9.1 MYC RAN
2 Decreased cell number GR00303-A 9.1 MYC OPA1 PHB2 RAN
3 Decreased BBC3 mRNA expression GR00389-S-3 8.96 CEBPB TP53

MGI Mouse Phenotypes related to Hypertrichosis Universalis Congenita, Ambras Type:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.1 CEBPB MYC OPA1 SOX3 TP53 TRPS1

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 30

Anatomical Context for Hypertrichosis Universalis Congenita, Ambras Type

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

42
Skin

Publications for Hypertrichosis Universalis Congenita, Ambras Type

Articles related to Hypertrichosis Universalis Congenita, Ambras Type:

(show all 15)
# Title Authors Year
1
Ambras Syndrome with Gingival Hyperplasia: A Rare Entity. ( 27601862 )
2016
2
Ambras syndrome: A rare case report. ( 27080973 )
2016
3
Congenital generalized hypertrichosis terminalis: a proposed classification and a plea to avoid the ambiguous term &amp;quot;Ambras syndrome&amp;quot;. ( 25961852 )
2015
4
Ambras Syndrome: First Reported Case in Bangladesh and its Oral Rehabilitation. ( 26620032 )
2015
5
Ambras syndrome in a Korean patient with balanced pericentric inversion (8)(p11.2q24.2). ( 20696554 )
2010
6
A position effect on TRPS1 is associated with Ambras syndrome in humans and the Koala phenotype in mice. ( 18713754 )
2008
7
A hairy development in hypertrichosis: a brief review of Ambras syndrome. ( 18328202 )
2007
8
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
9
Ambras syndrome: report on two affected siblings with no prior family history. ( 15365467 )
2004
10
Diagnosis of Ambras syndrome: comments on complex cytogenetic rearrangement of chromosome 8q in a case of Ambras syndrome. ( 11932999 )
2002
11
Complex cytogenetic rearrangement of chromosome 8q in a case of Ambras syndrome. ( 11471181 )
2001
12
Differentiation of Ambras syndrome from Hypertrichosis Universalis. ( 10735640 )
2000
13
A new case of Ambras syndrome associated with a paracentric inversion (8) (q12; q22) ( 9712536 )
1998
14
Differentiation of congenital hypertrichosis from Ambras syndrome. ( 7889664 )
1994
15
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

Pathways related to Hypertrichosis Universalis Congenita, Ambras Type according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.02 CEBPB MAT2A MYC
2
Show member pathways
10.82 MAT1A MAT2A
3 10.82 MYC TP53
4 10.66 MYC TP53
5 10.61 G6PD MYC TP53
6
Show member pathways
10.6 MYC TP53
7
Show member pathways
10.36 MAT1A MAT2A

GO Terms for Hypertrichosis Universalis Congenita, Ambras Type

Cellular components related to Hypertrichosis Universalis Congenita, Ambras Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein-containing complex GO:0032991 9.55 MYC PHB2 RAN TP53 TRPS1
2 nuclear matrix GO:0016363 9.13 CEBPB PHB2 TP53
3 nuclear chromatin GO:0000790 8.92 CEBPB MYC TP53 TRPS1

Biological processes related to Hypertrichosis Universalis Congenita, Ambras Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cellular response to hypoxia GO:0071456 9.58 MYC OPA1 TP53
2 negative regulation of apoptotic process GO:0043066 9.55 MYC OPA1 PHB2 TCIM TP53
3 one-carbon metabolic process GO:0006730 9.43 MAT1A MAT2A
4 GTP metabolic process GO:0046039 9.37 OPA1 RAN
5 positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress GO:1990440 9.26 CEBPB TP53
6 protein import into nucleus, translocation GO:0000060 9.16 RAN
7 hypothalamus development GO:0021854 9.02 SOX3
8 inner mitochondrial membrane organization GO:0007007 8.65 OPA1
9 S-adenosylmethionine biosynthetic process GO:0006556 8.62 MAT1A MAT2A

Molecular functions related to Hypertrichosis Universalis Congenita, Ambras Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 histone acetyltransferase binding GO:0035035 9.16 CEBPB TP53
2 RNA polymerase II core promoter sequence-specific DNA binding GO:0000979 8.96 CEBPB SOX3
3 methionine adenosyltransferase activity GO:0004478 8.62 MAT1A MAT2A

Sources for Hypertrichosis Universalis Congenita, Ambras Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
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45 MeSH
46 MESH via Orphanet
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50 NCI
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52 NDF-RT
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58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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