GFD
MCID: FBR088
MIFTS: 25

Fibromatosis, Gingival, with Progressive Deafness (GFD)

Categories: Ear diseases, Fetal diseases, Genetic diseases, Oral diseases, Rare diseases

Aliases & Classifications for Fibromatosis, Gingival, with Progressive Deafness

MalaCards integrated aliases for Fibromatosis, Gingival, with Progressive Deafness:

Name: Fibromatosis, Gingival, with Progressive Deafness 56
Jones Syndrome 56 52 58 71
Gingival Fibromatosis with Sensorineural Hearing Loss 56 52
Gfd 56 52
Familial Gingival Fibromatosis Associated with Progressive Deafness 52
Gingival Fibromatosis with Sensorineural Hearing Loss; Gfd 56
Gingival Fibromatosis-Progressive Deafness Syndrome 58
Gingival Fibromatosis with Progressive Deafness 52

Characteristics:

Orphanet epidemiological data:

58
gingival fibromatosis-progressive deafness syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
fibromatosis, gingival, with progressive deafness:
Inheritance autosomal dominant inheritance


Classifications:

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


External Ids:

OMIM 56 135550
ICD10 via Orphanet 33 H90.3
UMLS via Orphanet 72 C1851112
Orphanet 58 ORPHA2027
MedGen 41 C1851112
UMLS 71 C1851112

Summaries for Fibromatosis, Gingival, with Progressive Deafness

NIH Rare Diseases : 52 Jones syndrome is a very rare condition characterized by gingival fibromatosis (enlargement and overgrowth of the gums) and progressive, sensorineural hearing loss . The onset of gingival fibromatosis usually occurs with the eruption of the permanent teeth. Excessive growth of the gums may cause displacement of teeth, over-retention of primary teeth, and increased spacing. Jones syndrome is inherited in an autosomal dominant manner, but the underlying genetic cause is not yet known. Only a few families with Jones syndrome have been reported.

MalaCards based summary : Fibromatosis, Gingival, with Progressive Deafness, also known as jones syndrome, is related to culler-jones syndrome and curry-jones syndrome. Affiliated tissues include skin, heart and tongue, and related phenotypes are gingival overgrowth and sensorineural hearing impairment

More information from OMIM: 135550

Related Diseases for Fibromatosis, Gingival, with Progressive Deafness

Graphical network of the top 20 diseases related to Fibromatosis, Gingival, with Progressive Deafness:



Diseases related to Fibromatosis, Gingival, with Progressive Deafness

Symptoms & Phenotypes for Fibromatosis, Gingival, with Progressive Deafness

Human phenotypes related to Fibromatosis, Gingival, with Progressive Deafness:

58 31
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 gingival overgrowth 58 31 hallmark (90%) Very frequent (99-80%) HP:0000212
2 sensorineural hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000407
3 delayed eruption of teeth 58 31 hallmark (90%) Very frequent (99-80%) HP:0000684
4 gingival fibromatosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000169
5 progressive sensorineural hearing impairment 31 HP:0000408

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Mouth:
gingival fibromatosis

Head And Neck Ears:
hearing loss, progressive sensorineural

Clinical features from OMIM:

135550

Drugs & Therapeutics for Fibromatosis, Gingival, with Progressive Deafness

Search Clinical Trials , NIH Clinical Center for Fibromatosis, Gingival, with Progressive Deafness

Genetic Tests for Fibromatosis, Gingival, with Progressive Deafness

Anatomical Context for Fibromatosis, Gingival, with Progressive Deafness

MalaCards organs/tissues related to Fibromatosis, Gingival, with Progressive Deafness:

40
Skin, Heart, Tongue

Publications for Fibromatosis, Gingival, with Progressive Deafness

Articles related to Fibromatosis, Gingival, with Progressive Deafness:

(show all 25)
# Title Authors PMID Year
1
Gingival fibromatosis with sensorineural hearing loss: an autosomal dominant trait. 56
4061496 1985
2
Happle-Tinschert, Curry-Jones and segmental basal cell naevus syndromes, overlapping disorders caused by somatic mutations in hedgehog signalling genes: the mosaic hedgehog spectrum. 61
31120550 2020
3
Occurrence and characterization of medulloblastoma in a patient with Curry-Jones syndrome. 61
31825089 2019
4
A novel GLI2 mutation responsible for congenital hypopituitarism and polymalformation syndrome. 61
30583238 2019
5
A novel truncating variant of GLI2 associated with Culler-Jones syndrome impairs Hedgehog signalling. 61
30629636 2019
6
Gastrointestinal disorders in Curry-Jones syndrome: Clinical and molecular insights from an affected newborn. 61
28386950 2017
7
Human Malformation Syndromes of Defective GLI: Opposite Phenotypes of 2q14.2 (GLI2) and 7p14.2 (GLI3) Microdeletions and a GLIA/R Balance Model. 61
29298444 2017
8
Happle-Tinschert syndrome can be caused by a mosaic SMO mutation and is suggested to be a variant of Curry-Jones syndrome. 61
27484736 2016
9
Happle-Tinschert syndrome can be caused by a mosaic SMO mutation and is suggested to be a variant of Curry-Jones syndrome: reply from the authors. 61
27534807 2016
10
A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome. 61
27236920 2016
11
Gingival Enlargement in a Case of Variant Jones Syndrome: a Case Report. 61
26966711 2016
12
Idiopathic gingival fibromatosis associated with progressive hearing loss: A nonfamilial variant of Jones syndrome. 61
24963260 2014
13
What is your diagnosis? Recurrent lobular capillary hemangioma with satellitosis (Warner and Wilson-Jones syndrome). 61
24738100 2014
14
Violaceous papules of the back: a quiz. Diagnosis: recurrent pyogenic granuloma or Warner and Wilson-Jones syndrome (1, 2). 61
21103841 2011
15
Two new patients with Curry-Jones syndrome with trichoblastoma and medulloblastoma suggest an etiologic role of the sonic hedgehog-patched-GLI pathway. 61
18798318 2008
16
The phenotypic overlap of syndromes associated with hereditary gingival fibromatosis: follow-up of a family for five years. 61
17395066 2007
17
Mild case of Curry-Jones syndrome. 61
16531740 2006
18
Hereditary gingival fibromatosis and sensorineural hearing loss in a 42-year-old man with Jones syndrome. 61
15287422 2004
19
[Recurrent pyogenic granuloma or Warner and Wilson-Jones syndrome]. 61
9295904 1997
20
Craniofacial abnormalities, agenesis of the corpus callosum, polysyndactyly and abnormal skin and gut development--the Curry Jones syndrome. 61
7606318 1995
21
[Joint chondromatosis. Results in 40 surgically and conservatively treated patients]. 61
2281329 1990
22
Craniosynostosis update 1987. 61
3144990 1988
23
[Synovial chondrosis. Chondromatosis--osteochondromatosis]. 61
3577352 1987
24
[Warner-Wilson-Jones syndrome in an infant (eruptive angiomatosis with spontaneous remission)]. 61
4825411 1974
25
Biochemical studies in Nevin-Jones syndrome. 61
5431721 1970

Variations for Fibromatosis, Gingival, with Progressive Deafness

Expression for Fibromatosis, Gingival, with Progressive Deafness

Search GEO for disease gene expression data for Fibromatosis, Gingival, with Progressive Deafness.

Pathways for Fibromatosis, Gingival, with Progressive Deafness

GO Terms for Fibromatosis, Gingival, with Progressive Deafness

Sources for Fibromatosis, Gingival, with Progressive Deafness

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11 DGIdb
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43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
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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