HTC3
MCID: HYP728
MIFTS: 27

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 58
Gingival Fibromatosis with Hypertrichosis 54 30 6
Hypertrichosis Terminalis, Generalized, with or Without Gingival Hyperplasia 58 74
Hypertrichosis Terminalis, Generalized, with Gingival Hyperplasia 54
Hereditary Gingival Fibromatosis with Hypertrichosis 54
Hypertrichosis with or Without Gingival Hyperplasia 60
Hirsutism-Congenital Gingival Hyperplasia Syndrome 60
Congenital Generalized Hypertrichosis Terminalis 60
Chromosome 17q24.2-Q24.3 Duplication Syndrome 58
Gingival Fibromatosis-Hypertrichosis Syndrome 60
Extreme Hirsutism with Gingival Fibromatosis 54
Fibromatosis, Gingival, with Hypertrichosis 58
Chromosome 17q24.2-Q24.3 Deletion Syndrome 58
Microduplication 17q24.2-Q24.3 Syndrome 58
Microdeletion 17q24.2-Q24.3 Syndrome 58
Htc3 58
Cght 60

Characteristics:

Orphanet epidemiological data:

60
gingival fibromatosis-hypertrichosis syndrome
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
hypertrichosis, congenital generalized, with or without gingival hyperplasia:
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:



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

NIH Rare Diseases : 54 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 gingival fibromatosis with hypertrichosis, is related to fibromatosis, gingival, with hypertrichosis and mental retardation and gingival fibromatosis. 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 related phenotypes are generalized hirsutism and gingival fibromatosis

OMIM : 58 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 fibromatosis, gingival, with hypertrichosis and mental retardation 12.5
2 gingival fibromatosis 10.3
3 hypertrichosis 10.3
4 fibromatosis 10.3
5 hypertrichosis universalis congenita, ambras type 10.2

Graphical network of the top 20 diseases related to Hypertrichosis, Congenital Generalized, with or Without Gingival Hyperplasia:



Diseases related to Hypertrichosis, Congenital Generalized, with or Without Gingival Hyperplasia

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

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

60 33 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 generalized hirsutism 60 33 hallmark (90%) Very frequent (99-80%) HP:0002230
2 gingival fibromatosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000169
3 eeg abnormality 60 33 frequent (33%) Frequent (79-30%) HP:0002353
4 gingival overgrowth 60 33 frequent (33%) Frequent (79-30%) HP:0000212
5 coarse facial features 60 33 frequent (33%) Frequent (79-30%) HP:0000280
6 delayed eruption of teeth 60 33 frequent (33%) Frequent (79-30%) HP:0000684
7 seizures 60 33 occasional (7.5%) Occasional (29-5%) HP:0001250
8 ataxia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001251
9 thick eyebrow 60 33 occasional (7.5%) Occasional (29-5%) HP:0000574
10 cognitive impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0100543
11 synophrys 60 33 occasional (7.5%) Occasional (29-5%) HP:0000664
12 thick nasal alae 33 occasional (7.5%) HP:0009928
13 epicanthus 33 occasional (7.5%) HP:0000286
14 downslanted palpebral fissures 33 occasional (7.5%) HP:0000494
15 bulbous nose 33 occasional (7.5%) HP:0000414
16 wide nasal base 33 occasional (7.5%) HP:0012810
17 hirsutism 60 33 Very frequent (99-80%) HP:0001007
18 abnormality of the dentition 60 Frequent (79-30%)
19 hypertrichosis 33 HP:0000998
20 congenital, generalized hypertrichosis 33 HP:0004540

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Mouth:
gingival fibromatosis

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)

Skin Nails Hair Hair:
hirsutism
hypertrichosis
elongated hair shafts

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 30 ABCA5

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

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

42
Skin

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

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

# Title Authors Year
1
Gingival fibromatosis with hypertrichosis syndrome: Case series of rare syndrome. ( 28836540 )
2017
2
Mutations in the cholesterol transporter gene ABCA5 are associated with excessive hair overgrowth. ( 24831815 )
2014
3
Gingival fibromatosis with hypertrichosis. A case report. ( 3859642 )
1985

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

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ABCA5 NM_018672.4(ABCA5): c.4320+1G> C single nucleotide variant Pathogenic rs199753304 GRCh37 Chromosome 17, 67249934: 67249934
2 ABCA5 NM_018672.4(ABCA5): c.4320+1G> C single nucleotide variant Pathogenic rs199753304 GRCh38 Chromosome 17, 69253793: 69253793

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

7
# CNVD ID Chromosom 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...

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70 SNOMED-CT via HPO
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72 TGDB
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74 UMLS
75 UMLS via Orphanet
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