MCID: HYP728
MIFTS: 28

Hypertrichosis, Congenital Generalized, with or Without Gingival Hyperplasia

Categories: Rare diseases, Skin diseases, Fetal diseases, Oral 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 57
Hypertrichosis Terminalis, Generalized, with or Without Gingival Hyperplasia 57 13 73
Gingival Fibromatosis with Hypertrichosis 53 29 6
Hypertrichosis Terminalis, Generalized, with Gingival Hyperplasia 53
Hereditary Gingival Fibromatosis with Hypertrichosis 53
Hypertrichosis with or Without Gingival Hyperplasia 59
Hirsutism-Congenital Gingival Hyperplasia Syndrome 59
Congenital Generalized Hypertrichosis Terminalis 59
Chromosome 17q24.2-Q24.3 Duplication Syndrome 57
Gingival Fibromatosis-Hypertrichosis Syndrome 59
Extreme Hirsutism with Gingival Fibromatosis 53
Fibromatosis, Gingival, with Hypertrichosis 57
Chromosome 17q24.2-Q24.3 Deletion Syndrome 57
Microduplication 17q24.2-Q24.3 Syndrome 57
Microdeletion 17q24.2-Q24.3 Syndrome 57
Htc3 57
Cght 59

Characteristics:

Orphanet epidemiological data:

59
gingival fibromatosis-hypertrichosis syndrome
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
hypertrichosis, congenital generalized, with or without gingival hyperplasia:
Inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:



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

NIH Rare Diseases : 53 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 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 gingival fibromatosis and gingival overgrowth

OMIM : 57 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 12.3
2 gingival fibromatosis 10.2
3 gingivitis 10.2
4 hypertrichosis 10.2
5 fibromatosis 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...

Symptoms via clinical synopsis from OMIM:

57
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

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

59 32 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 gingival fibromatosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000169
2 gingival overgrowth 59 32 frequent (33%) Frequent (79-30%) HP:0000212
3 coarse facial features 59 32 frequent (33%) Frequent (79-30%) HP:0000280
4 thick eyebrow 59 32 occasional (7.5%) Occasional (29-5%) HP:0000574
5 synophrys 59 32 occasional (7.5%) Occasional (29-5%) HP:0000664
6 delayed eruption of teeth 59 32 frequent (33%) Frequent (79-30%) HP:0000684
7 hirsutism 59 32 Very frequent (99-80%) HP:0001007
8 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
9 ataxia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001251
10 generalized hirsutism 59 32 hallmark (90%) Very frequent (99-80%) HP:0002230
11 eeg abnormality 59 32 frequent (33%) Frequent (79-30%) HP:0002353
12 cognitive impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0100543
13 abnormality of the dentition 59 Frequent (79-30%)
14 epicanthus 32 occasional (7.5%) HP:0000286
15 bulbous nose 32 occasional (7.5%) HP:0000414
16 downslanted palpebral fissures 32 occasional (7.5%) HP:0000494
17 hypertrichosis 32 HP:0000998
18 congenital, generalized hypertrichosis 32 HP:0004540
19 thick nasal alae 32 occasional (7.5%) HP:0009928
20 wide nasal base 32 occasional (7.5%) HP:0012810

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:

41
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
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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17 ExPASy
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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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