HTC3
MCID: HYP728
MIFTS: 28

Hypertrichosis, Congenital Generalized, with or Without Gingival Hyperplasia (HTC3)

Categories: Fetal diseases, Oral diseases, Rare diseases, Skin diseases

Aliases & Classifications for Hypertrichosis, Congenital Generalized, with or Without Gingival...

MalaCards integrated aliases for Hypertrichosis, Congenital Generalized, with or Without Gingival Hyperplasia:

Name: Hypertrichosis, Congenital Generalized, with or Without Gingival Hyperplasia 56
Hypertrichosis Terminalis, Generalized, with or Without Gingival Hyperplasia 56 13 71
Gingival Fibromatosis with Hypertrichosis 52 29 6
Hypertrichosis Terminalis, Generalized, with Gingival Hyperplasia 52
Hereditary Gingival Fibromatosis with Hypertrichosis 52
Hypertrichosis with or Without Gingival Hyperplasia 58
Hirsutism-Congenital Gingival Hyperplasia Syndrome 58
Congenital Generalized Hypertrichosis Terminalis 58
Chromosome 17q24.2-Q24.3 Duplication Syndrome 56
Gingival Fibromatosis-Hypertrichosis Syndrome 58
Extreme Hirsutism with Gingival Fibromatosis 52
Fibromatosis, Gingival, with Hypertrichosis 56
Chromosome 17q24.2-Q24.3 Deletion Syndrome 56
Microduplication 17q24.2-Q24.3 Syndrome 56
Microdeletion 17q24.2-Q24.3 Syndrome 56
Htc3 56
Cght 58

Characteristics:

Orphanet epidemiological data:

58
gingival fibromatosis-hypertrichosis syndrome
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
hypertrichosis, congenital generalized, with or without gingival hyperplasia:
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare skin diseases
Developmental anomalies during embryogenesis
Rare odontological diseases


Summaries for Hypertrichosis, Congenital Generalized, with or Without Gingival...

NIH Rare Diseases : 52 Gingival fibromatosis with hypertrichosis is a genetic condition that can cause profound overgrowth of hair and gums, as well as other variable features. Signs and symptoms may be present from birth or begin in later childhood to adolescence. The historical figure, Julia Pastrana and her infant son, likely had this syndrome . The underlying cause of gingival fibromatosis with hypertrichosis is unknown, but speculated to involve a heritable contiguous gene deletion . Gingival fibromatosis with hypertrichosis can be inhertied from an affected parent or occur for the first time in a family due to a new (spontaneous) genetic change in the affected person. An autosomal dominant pattern of inheritance has been demonstrated in individual families. The signs and symptoms of gingival fibromatosis with hypertrichosis overlap with a number of other gum overgrowth syndromes, such as Laband syndrome , juvenile hyaline fibromatosis and Jones syndrome . Improved understanding regarding the cause, will likely aid in distinguishing these syndromes in the future.

MalaCards based summary : Hypertrichosis, Congenital Generalized, with or Without Gingival Hyperplasia, also known as hypertrichosis terminalis, generalized, with or without gingival hyperplasia, is related to hypertrichosis and fibromatosis, gingival, with hypertrichosis and mental retardation. An important gene associated with Hypertrichosis, Congenital Generalized, with or Without Gingival Hyperplasia is ABCA5 (ATP Binding Cassette Subfamily A Member 5). Affiliated tissues include skin and thymus, and related phenotypes are generalized hirsutism and gingival fibromatosis

OMIM : 56 Extreme hirsutism with gingival fibromatosis follows a dominant pattern of inheritance (Weski, 1920; Garn and Hatch, 1950). There is no necessary relationship between the age of development of the gingival changes and the hypertrichosis. The latter may be present at birth but often appears at puberty (Anderson et al., 1969). For a discussion of genetic heterogeneity of congenital generalized hypertrichosis, see HTC1 (145701). (135400)

Related Diseases for Hypertrichosis, Congenital Generalized, with or Without Gingival...

Diseases related to Hypertrichosis, Congenital Generalized, with or Without Gingival Hyperplasia via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hypertrichosis 29.3 HTGH ABCA5
2 fibromatosis, gingival, with hypertrichosis and mental retardation 12.6
3 gingival fibromatosis 10.3
4 fibromatosis 10.3
5 odontochondrodysplasia 10.2
6 overgrowth syndrome 10.2
7 hypertrichosis universalis congenita, ambras type 10.2
8 cantú syndrome and related disorders 10.2
9 carcinoma showing thymus-like differentiation 10.2

Symptoms & Phenotypes for Hypertrichosis, Congenital Generalized, with or Without Gingival...

Human phenotypes related to Hypertrichosis, Congenital Generalized, with or Without Gingival Hyperplasia:

58 31 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 generalized hirsutism 58 31 hallmark (90%) Very frequent (99-80%) HP:0002230
2 gingival fibromatosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000169
3 eeg abnormality 58 31 frequent (33%) Frequent (79-30%) HP:0002353
4 coarse facial features 58 31 frequent (33%) Frequent (79-30%) HP:0000280
5 gingival overgrowth 58 31 frequent (33%) Frequent (79-30%) HP:0000212
6 delayed eruption of teeth 58 31 frequent (33%) Frequent (79-30%) HP:0000684
7 seizures 58 31 occasional (7.5%) Occasional (29-5%) HP:0001250
8 ataxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001251
9 thick eyebrow 58 31 occasional (7.5%) Occasional (29-5%) HP:0000574
10 cognitive impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0100543
11 synophrys 58 31 occasional (7.5%) Occasional (29-5%) HP:0000664
12 downslanted palpebral fissures 31 occasional (7.5%) HP:0000494
13 thick nasal alae 31 occasional (7.5%) HP:0009928
14 epicanthus 31 occasional (7.5%) HP:0000286
15 bulbous nose 31 occasional (7.5%) HP:0000414
16 wide nasal base 31 occasional (7.5%) HP:0012810
17 hirsutism 58 31 Very frequent (99-80%) HP:0001007
18 abnormality of the dentition 58 Frequent (79-30%)
19 hypertrichosis 31 HP:0000998
20 congenital, generalized hypertrichosis 31 HP:0004540

Symptoms via clinical synopsis from OMIM:

56
Skin Nails Hair Hair:
hypertrichosis
hirsutism
elongated hair shafts

Head And Neck Face:
long prominent philtrum (in some patients)
deep groove of philtrum (in some patients)

Head And Neck Nose:
bulbous nasal tip (in some patients)
thick nasal alae (in some patients)
broad base of nose (in some patients)

Head And Neck Mouth:
gingival fibromatosis

Head And Neck Eyes:
downslanting palpebral fissures (in some patients)
epicanthal folds (in some patients)

Skin Nails Hair Skin Histology:
medullated and pigmented hair follicles
hair follicles penetrate deep into dermis
thick follicles

Clinical features from OMIM:

135400

Drugs & Therapeutics for Hypertrichosis, Congenital Generalized, with or Without Gingival...

Search Clinical Trials , NIH Clinical Center for Hypertrichosis, Congenital Generalized, with or Without Gingival Hyperplasia

Genetic Tests for Hypertrichosis, Congenital Generalized, with or Without Gingival...

Genetic tests related to Hypertrichosis, Congenital Generalized, with or Without Gingival Hyperplasia:

# Genetic test Affiliating Genes
1 Gingival Fibromatosis with Hypertrichosis 29

Anatomical Context for Hypertrichosis, Congenital Generalized, with or Without Gingival...

MalaCards organs/tissues related to Hypertrichosis, Congenital Generalized, with or Without Gingival Hyperplasia:

40
Skin, Thymus

Publications for Hypertrichosis, Congenital Generalized, with or Without Gingival...

Articles related to Hypertrichosis, Congenital Generalized, with or Without Gingival Hyperplasia:

(show all 16)
# Title Authors PMID Year
1
Mutations in the cholesterol transporter gene ABCA5 are associated with excessive hair overgrowth. 56 6
24831815 2014
2
Gingival fibromatosis with hypertrichosis. A case report. 61 56
3859642 1985
3
Trps1 and its target gene Sox9 regulate epithelial proliferation in the developing hair follicle and are associated with hypertrichosis. 56
23133399 2012
4
Copy-number mutations on chromosome 17q24.2-q24.3 in congenital generalized hypertrichosis terminalis with or without gingival hyperplasia. 56
19463983 2009
5
A large-scale survey of genetic copy number variations among Han Chinese residing in Taiwan. 56
19108714 2008
6
Hypertrichosis terminalis, gingival hyperplasia, and a characteristic face: a new distinct entity. 56
12503107 2003
7
Hereditary gingival fibromatosis (HGF) with hypertrichosis is unlinked to the HGF1 and HGF2 loci. 56
12503114 2003
8
An autosomal dominant syndrome of acromegaloid facial appearance and generalised hypertrichosis terminalis. 56
8950682 1996
9
Julia Pastrana, the nondescript: an example of congenital, generalized hypertrichosis terminalis with gingival hyperplasia. 56
8213906 1993
10
Gingival hyperplasia and folic acid deficiency from anticonvulsive drug therapy: a theoretical relationship. 56
895164 1977
11
Heterogeneity in gingival fibromatosis. 56
4950923 1971
12
Hereditary gingival fibromatosis. 56
5792612 1969
13
Hereditary general gingival hyperplasia. 56
15415589 1950
14
Gingival fibromatosis with hypertrichosis syndrome: Case series of rare syndrome. 61
28836540 2017
15
Heterogeneity in the gingival fibromatoses. 61
1913458 1991
16
Idiopathic gingival fibromatosis associated with mild hypertrichosis. 61
1820429 1991

Variations for Hypertrichosis, Congenital Generalized, with or Without Gingival...

ClinVar genetic disease variations for Hypertrichosis, Congenital Generalized, with or Without Gingival Hyperplasia:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ABCA5 NM_172232.4(ABCA5):c.4320+1G>CSNV Pathogenic 139604 rs199753304 17:67249934-67249934 17:69253793-69253793

Copy number variations for Hypertrichosis, Congenital Generalized, with or Without Gingival Hyperplasia from CNVD:

7
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 116023 17 61600000 68400000 Copy number Congenital generalized hypertrichosis terminalis
2 116296 17 64200000 70900000 Copy number Congenital generalized hypertrichosis terminalis

Expression for Hypertrichosis, Congenital Generalized, with or Without Gingival...

Search GEO for disease gene expression data for Hypertrichosis, Congenital Generalized, with or Without Gingival Hyperplasia.

Pathways for Hypertrichosis, Congenital Generalized, with or Without Gingival...

GO Terms for Hypertrichosis, Congenital Generalized, with or Without Gingival...

Sources for Hypertrichosis, Congenital Generalized, with or Without Gingival...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
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28 GO
29 GTR
30 HMDB
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32 ICD10
33 ICD10 via Orphanet
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56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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