HTC1
MCID: HYP351
MIFTS: 38

Hypertrichosis Universalis Congenita, Ambras Type (HTC1)

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 70
Ambras Syndrome 57 12 73 20 58 44
Hypertrichosis, Congenital Generalized 57 13 70
Ambras Type Hypertrichosis Universalis Congenita 12 15
Htc1 57 12
Congenital Generalized Hypertrichosis, Macias-Flores Type 58
Chromosome Xq27.1 Interchromosomal Insertion Syndrome 57
Congenital Generalized Hypertrichosis, Ambras Type 58
Hypertrichosis Universalis Congenita Ambras Type 20
X-Linked Congenital Generalized Hypertrichosis 58
Macias Flores-Garcia Cruz-Rivera Syndrome 58
Htc 1 20
Htc2 57
Cgh 57
Hcg 57

Characteristics:

Orphanet epidemiological data:

58
congenital generalized hypertrichosis, ambras type
Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant


HPO:

31
hypertrichosis, congenital generalized:
Inheritance x-linked inheritance x-linked dominant inheritance

hypertrichosis universalis congenita, ambras type:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare skin diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0111060
OMIM® 57 145701 307150
MeSH 44 C536605
ICD10 32 Q84.2
MESH via Orphanet 45 C536605 C538388
ICD10 via Orphanet 33 Q84.2
UMLS via Orphanet 71 C1840362 C2931836
UMLS 70 C1840362 C1855900

Summaries for Hypertrichosis Universalis Congenita, Ambras Type

GARD : 20 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 x-linked congenital generalized hypertrichosis. An important gene associated with Hypertrichosis Universalis Congenita, Ambras Type is HTC2 (Hypertrichosis 2 (Generalized, Congenital)), and among its related pathways/superpathways is superpathway of methionine degradation. Affiliated tissues include breast, thyroid and ovary, 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) (Updated 20-May-2021)

Wikipedia : 73 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 872)
# Related Disease Score Top Affiliating Genes
1 hypertrichosis 31.1 TRPS1 SOX3 ITC1 HTC2 HTC1
2 x-linked congenital generalized hypertrichosis 11.4
3 peroxisome biogenesis disorder 11a 11.2
4 pediatric cns choriocarcinoma 11.1
5 hypertrichosis, congenital generalized, with or without gingival hyperplasia 11.0
6 placental site trophoblastic tumor 10.9
7 ovarian mucinous adenofibroma 10.9
8 ovarian clear cell malignant adenofibroma 10.9
9 chromosome 15q24 deletion syndrome 10.9
10 mesomelic dysplasia, kantaputra type 10.9
11 mesomelia-synostoses syndrome 10.9
12 potocki-lupski syndrome 10.9
13 chromosome 2p16.1-p15 deletion syndrome 10.9
14 peroxisome biogenesis disorder 11b 10.9
15 16p13.11 microduplication syndrome 10.9
16 19p13.12 microdeletion syndrome 10.9
17 1q44 microdeletion syndrome 10.9
18 20p12.3 microdeletion syndrome 10.9
19 8p inverted duplication/deletion syndrome 10.9
20 chromosome 6q25 microdeletion syndrome 10.9
21 ectopic pregnancy 10.8
22 choriocarcinoma 10.8
23 ovarian hyperstimulation syndrome 10.7
24 seminoma 10.5
25 pre-eclampsia 10.5
26 chromosomal triplication 10.5
27 alacrima, achalasia, and mental retardation syndrome 10.4
28 testicular cancer 10.4
29 teratoma 10.4
30 precocious puberty 10.4
31 microcephaly 10.4
32 polycystic ovary syndrome 10.4
33 eclampsia 10.3
34 hypotonia 10.3
35 hair whorl 10.3
36 germinoma 10.3
37 invasive mole 10.3
38 trophoblastic neoplasm 10.3
39 germ cells tumors 10.3
40 autism spectrum disorder 10.3
41 tetanus 10.3
42 autism 10.2
43 cholera 10.2
44 hyperprolactinemia 10.2
45 ovarian cyst 10.2
46 placenta disease 10.2
47 testicular seminoma 10.2
48 hyperthyroidism 10.2
49 neuroblastoma 10.2
50 ring chromosome 10.2

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:

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Hair:
persistent generalized hypertrichosis, esp. face, ears, and shoulders

Clinical features from OMIM®:

145701 307150 (Updated 20-May-2021)

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.36 ALX4 APBA1 FGF17 FOXD1 MAT2A PCCA

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

Anatomical Context for Hypertrichosis Universalis Congenita, Ambras Type

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

40
Breast, Thyroid, Ovary, Heart, Liver, Lung, Bone

Publications for Hypertrichosis Universalis Congenita, Ambras Type

Articles related to Hypertrichosis Universalis Congenita, Ambras Type:

(show all 20)
# Title Authors PMID Year
1
A position effect on TRPS1 is associated with Ambras syndrome in humans and the Koala phenotype in mice. 61 57
18713754 2008
2
Cloning of the breakpoints of a de novo inversion of chromosome 8, inv (8)(p11.2q23.1) in a patient with Ambras syndrome. 57 61
15305058 2004
3
Diagnosis of Ambras syndrome: comments on complex cytogenetic rearrangement of chromosome 8q in a case of Ambras syndrome. 61 57
11932999 2002
4
Complex cytogenetic rearrangement of chromosome 8q in a case of Ambras syndrome. 57 61
11471181 2001
5
Differentiation of Ambras syndrome from Hypertrichosis Universalis. 57 61
10735640 2000
6
A new case of Ambras syndrome associated with a paracentric inversion (8) (q12; q22) 57 61
9712536 1998
7
Ambras syndrome: delineation of a unique hypertrichosis universalis congenita and association with a balanced pericentric inversion (8) (p11.2; q22) 61 57
8275569 1993
8
Trps1 and its target gene Sox9 regulate epithelial proliferation in the developing hair follicle and are associated with hypertrichosis. 57
23133399 2012
9
Ambral syndrome and congenital generalized hypertrichosis. 57
7889653 1994
10
A new form of hypertrichosis inherited as an X-linked dominant trait. 57
6698556 1984
11
Ambras syndrome: A rare case report. 61
27080973 2016
12
Ambras Syndrome with Gingival Hyperplasia: A Rare Entity. 61
27601862 2016
13
Ambras Syndrome: First Reported Case in Bangladesh and its Oral Rehabilitation. 61
26620032 2015
14
Congenital generalized hypertrichosis terminalis: a proposed classification and a plea to avoid the ambiguous term "Ambras syndrome". 61
25961852 2015
15
Ambras syndrome in a Korean patient with balanced pericentric inversion (8)(p11.2q24.2). 61
20696554 2010
16
[Ciliary hypertrichosis and facial dysmorphia associated with diffuse, congenital hypertrichosis: Ambras syndrome?]. 61
19442813 2009
17
A hairy development in hypertrichosis: a brief review of Ambras syndrome. 61
18328202 2007
18
Ambras syndrome: report on two affected siblings with no prior family history. 61
15365467 2004
19
[Ambras syndrome--a form of generalised congenital hypertrichosis]. 61
12053598 2002
20
Differentiation of congenital hypertrichosis from Ambras syndrome. 61
7889664 1994

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
Show member pathways
10.02 PCCA 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 chromatin GO:0000785 9.17 ZNF253 TSHZ1 TRPS1 SOX3 SOX18 FOXD1

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

# Name GO ID Score Top Affiliating Genes
1 anatomical structure morphogenesis GO:0009653 8.8 SOX3 SOX18 FOXD1

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

# Name GO ID Score Top Affiliating Genes
1 sequence-specific DNA binding GO:0043565 9.26 TRPS1 SOX18 FOXD1 ALX4
2 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.1 ZNF253 TSHZ1 SOX3 SOX18 FOXD1 ALX4

Sources for Hypertrichosis Universalis Congenita, Ambras Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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