MCID: RMN002
MIFTS: 28

Ramon Syndrome

Categories: Rare diseases, Bone diseases, Fetal diseases, Oral diseases, Neuronal diseases, Mental diseases

Aliases & Classifications for Ramon Syndrome

MalaCards integrated aliases for Ramon Syndrome:

Name: Ramon Syndrome 57 53 59 73
Cherubism, Gingival Fibromatosis, Epilepsy, Mental Deficiency, Hypertrichosis, and Stunted Growth 57 53
Cherubism-Gingival Fibromatosis-Intellectual Disability Syndrome 59
Gingival Fibromatosis Combined with Cherubism 53
Elementary Particle Interactions 44

Characteristics:

Orphanet epidemiological data:

59
ramon syndrome
Inheritance: Autosomal recessive;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
ramon syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Ramon Syndrome

MalaCards based summary : Ramon Syndrome, also known as cherubism, gingival fibromatosis, epilepsy, mental deficiency, hypertrichosis, and stunted growth, is related to cherubism and gingival fibromatosis, and has symptoms including seizures An important gene associated with Ramon Syndrome is ELMO2 (Engulfment And Cell Motility 2). Affiliated tissues include skin and bone, and related phenotypes are diabetes mellitus and intellectual disability

Description from OMIM: 266270

Related Diseases for Ramon Syndrome

Diseases related to Ramon Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 cherubism 10.0
2 gingival fibromatosis 10.0
3 epilepsy 10.0
4 gingivitis 10.0
5 retinitis 10.0
6 fibromatosis 10.0
7 rheumatoid arthritis 9.8
8 arthritis 9.8
9 diabetes mellitus 9.8
10 juvenile rheumatoid arthritis 9.8

Graphical network of the top 20 diseases related to Ramon Syndrome:



Diseases related to Ramon Syndrome

Symptoms & Phenotypes for Ramon Syndrome

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures
mental retardation

Head And Neck Mouth:
narrow palate
gingival fibromatosis (onset 2 years)
gingival biopsy shows hyperkeratosis, acanthosis, papillomatosis

Head And Neck Eyes:
pigmentary retinopathy
axenfeld anomaly
pale optic disc

Head And Neck Ears:
hearing loss

Growth Weight:
weight less than 3rd percentile

Genitourinary External Genitalia Female:
hypertrophic labia minora (fibroepithelial hyperplasia)

Skin Nails Hair Skin:
telangiectasia (soles)
angiokeratomas (soles)

Skeletal Spine:
scoliosis
kyphosis

Growth Height:
short stature

Skin Nails Hair Hair:
hypertrichosis

Head And Neck Teeth:
delayed tooth eruption

Head And Neck Face:
cherubism (fibrous dysplasia of maxillae and mandible)

Skeletal:
rheumatoid arthritis, juvenile


Clinical features from OMIM:

266270

Human phenotypes related to Ramon Syndrome:

59 32 (show all 31)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 diabetes mellitus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000819
2 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
3 seizures 59 32 hallmark (90%) Very frequent (99-80%) HP:0001250
4 failure to thrive 59 32 hallmark (90%) Very frequent (99-80%) HP:0001508
5 narrow palate 59 32 hallmark (90%) Very frequent (99-80%) HP:0000189
6 sensorineural hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000407
7 abnormality of retinal pigmentation 59 32 frequent (33%) Frequent (79-30%) HP:0007703
8 full cheeks 59 32 hallmark (90%) Very frequent (99-80%) HP:0000293
9 hyperkeratosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000962
10 delayed eruption of teeth 59 32 frequent (33%) Frequent (79-30%) HP:0000684
11 generalized hirsutism 59 32 frequent (33%) Frequent (79-30%) HP:0002230
12 telangiectasia of the skin 59 32 occasional (7.5%) Occasional (29-5%) HP:0100585
13 conductive hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000405
14 abnormality of dental enamel 59 32 occasional (7.5%) Occasional (29-5%) HP:0000682
15 osteolysis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002797
16 gingival fibromatosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000169
17 scoliosis 32 HP:0002650
18 kyphosis 32 HP:0002808
19 hearing impairment 32 HP:0000365
20 short stature 32 HP:0004322
21 angiokeratoma 32 HP:0001014
22 decreased body weight 32 HP:0004325
23 optic disc pallor 32 HP:0000543
24 pigmentary retinopathy 32 HP:0000580
25 telangiectasia 32 HP:0001009
26 abnormality of the anterior chamber 59 Occasional (29-5%)
27 hypertrichosis 32 HP:0000998
28 enlarged labia minora 32 HP:0008683
29 juvenile rheumatoid arthritis 32 HP:0005681
30 axenfeld anomaly 32 HP:0001492
31 abnormal anterior chamber morphology 32 occasional (7.5%) HP:0000593

UMLS symptoms related to Ramon Syndrome:


seizures

Drugs & Therapeutics for Ramon Syndrome

Search Clinical Trials , NIH Clinical Center for Ramon Syndrome

Cochrane evidence based reviews: elementary particle interactions

Genetic Tests for Ramon Syndrome

Anatomical Context for Ramon Syndrome

MalaCards organs/tissues related to Ramon Syndrome:

41
Skin, Bone

Publications for Ramon Syndrome

Articles related to Ramon Syndrome:

# Title Authors Year
1
Homozygous mutation in ELMO2 may cause Ramon syndrome. ( 29095483 )
2017
2
Cherubism combined with epilepsy, mental retardation and gingival fibromatosis (Ramon syndrome): a case report. ( 20512637 )
2010
3
Axenfeld anomaly and retinal changes in Ramon syndrome: follow-up of two sibs. ( 11746043 )
2001
4
Retinal changes and tumorigenesis in Ramon syndrome: follow-up of a Brazilian family. ( 9557893 )
1998
5
Ramon syndrome with diabetes mellitus and vascular skin lesions in two sibs. ( 1342855 )
1992
6
Cherubism, gingival fibromatosis, epilepsy, and mental deficiency (Ramon syndrome) with juvenile rheumatoid arthritis. ( 3789007 )
1986

Variations for Ramon Syndrome

Expression for Ramon Syndrome

Search GEO for disease gene expression data for Ramon Syndrome.

Pathways for Ramon Syndrome

GO Terms for Ramon Syndrome

Sources for Ramon Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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