CGH
MCID: HYP351
MIFTS: 49

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 57 13 73
Ambras Syndrome 57 12 76 53 59 44
Hypertrichosis, Congenital Generalized 57 13 73
Ambras Type Hypertrichosis Universalis Congenita 12 15
Htc1 57 12
Congenital Generalized Hypertrichosis, Macias-Flores Type 59
Chromosome Xq27.1 Interchromosomal Insertion Syndrome 57
Congenital Generalized Hypertrichosis, Ambras Type 59
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, 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
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 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 Aurora A signaling and superpathway of methionine degradation. Affiliated tissues include skin, lung and bone, 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 : 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)

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:

(show top 50) (show all 390)
# Related Disease Score Top Affiliating Genes
1 mature teratoma 29.5 TP53 TG
2 suppressor of tumorigenicity 3 29.3 TP53 MYC
3 small cell cancer of the lung 29.3 TP53 SOX3 MYC
4 gestational trophoblastic tumor 11.7
5 peroxisome biogenesis disorder 11a 11.6
6 x-linked congenital generalized hypertrichosis 11.5
7 chromosome 15q24 deletion syndrome 11.3
8 hypertrichosis lanuginosa congenita 11.2
9 pediatric cns choriocarcinoma 11.2
10 hypertrichosis, congenital generalized, with or without gingival hyperplasia 11.1
11 perrault syndrome 1 11.1
12 placental site trophoblastic tumor 11.0
13 ovarian mucinous adenofibroma 11.0
14 ovarian clear cell malignant adenofibroma 11.0
15 mesomelic dysplasia, kantaputra type 11.0
16 mesomelia-synostoses syndrome 11.0
17 potocki-lupski syndrome 11.0
18 chromosome 2p16.1-p15 deletion syndrome 11.0
19 peroxisome biogenesis disorder 11b 11.0
20 16p13.11 microduplication syndrome 11.0
21 19p13.12 microdeletion syndrome 11.0
22 1q44 microdeletion syndrome 11.0
23 20p12.3 microdeletion syndrome 11.0
24 chromosome 6q25 microdeletion syndrome 11.0
25 ectopic pregnancy 10.4
26 choriocarcinoma 10.4
27 hypertrichosis 10.4
28 ovarian hyperstimulation syndrome 10.3
29 hydatidiform mole, recurrent, 1 10.3
30 hypogonadism 10.3
31 gestational trophoblastic neoplasm 10.3
32 hypogonadotropic hypogonadism 10.2
33 seminoma 10.2
34 ovarian cancer 10.2
35 testicular cancer 10.1
36 pre-eclampsia 10.1
37 teratoma 10.1
38 infertility 10.1
39 hypermethioninemia 10.1 MAT1A MAT2A
40 eclampsia 10.1
41 germ cells tumors 10.1
42 precocious puberty 10.1
43 lymphoma 10.0
44 colloid adenoma 10.0 TP53 TG
45 atypical follicular adenoma 10.0 TP53 TG
46 lymphocytic leukemia 10.0
47 hyperprolactinemia 10.0
48 polycystic ovary syndrome 10.0
49 alacrima, achalasia, and mental retardation syndrome 10.0
50 leukemia 10.0

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 scoliosis 32 occasional (7.5%) HP:0002650
2 hirsutism 32 HP:0001007
3 congenital, generalized hypertrichosis 32 HP:0004540

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased BBC3 mRNA expression GR00389-S-3 8.96 CEBPB TP53
2 Decreased cell number GR00303-A 8.92 MYC OPA1 PHB2 RAN

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.43 CEBPB MYC OPA1 SOX3 TP53 TRPS1
2 endocrine/exocrine gland MP:0005379 9.17 CEBPB MYC OPA1 PHB2 SOX3 TG

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, Lung, Bone, Heart, Thyroid, T Cells, B Cells

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

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 nucleoplasm GO:0005654 9.86 CEBPB MYC OPA1 RAN SOX3 TCIM
2 protein-containing complex GO:0032991 9.35 MYC PHB2 RAN TP53 TRPS1
3 nuclear matrix GO:0016363 9.33 CEBPB PHB2 TP53
4 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 response to gamma radiation GO:0010332 9.48 MYC TP53
4 protein import into nucleus, translocation GO:0000060 9.46 PHB2 RAN
5 one-carbon metabolic process GO:0006730 9.43 MAT1A MAT2A
6 GTP metabolic process GO:0046039 9.37 OPA1 RAN
7 hypothalamus development GO:0021854 9.32 MYC SOX3
8 positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress GO:1990440 9.26 CEBPB TP53
9 inner mitochondrial membrane organization GO:0007007 8.96 MYC OPA1
10 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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