MCID: CRB071
MIFTS: 16

Cerebral Gigantism Jaw Cysts

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

Aliases & Classifications for Cerebral Gigantism Jaw Cysts

MalaCards integrated aliases for Cerebral Gigantism Jaw Cysts:

Name: Cerebral Gigantism Jaw Cysts 53
Cerebral Gigantism-Jaw Cysts Syndrome 59
Cramer Niederdellmann Syndrome 53
Cramer-Niederdellmann Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
cerebral gigantism-jaw cysts syndrome
Prevalence: <1/1000000 (Worldwide);

Classifications:



Summaries for Cerebral Gigantism Jaw Cysts

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2081Disease definitionCerebral gigantism-jaw cysts syndrome is characterised by cerebral gigantism associated with a jaw cyst basal cell naevoid syndrome.EpidemiologyIt has been reported in less than ten patients from two families.Clinical descriptionNeurological manifestations include hydrocephalus, ventricular malformation, a cerebellar syndrome, intracranial calcification, oculomotor disturbances and, in some cases, mild peripheral nervous disorders.Visit the Orphanet disease page for more resources.

MalaCards based summary : Cerebral Gigantism Jaw Cysts, is also known as cerebral gigantism-jaw cysts syndrome. Affiliated tissues include brain and bone, and related phenotypes are macrocephaly and ataxia

Related Diseases for Cerebral Gigantism Jaw Cysts

Symptoms & Phenotypes for Cerebral Gigantism Jaw Cysts

Human phenotypes related to Cerebral Gigantism Jaw Cysts:

59 32 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000256
2 ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0001251
3 eeg abnormality 59 32 hallmark (90%) Very frequent (99-80%) HP:0002353
4 cerebral calcification 59 32 hallmark (90%) Very frequent (99-80%) HP:0002514
5 bone cyst 59 32 hallmark (90%) Very frequent (99-80%) HP:0012062
6 tall stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0000098
7 accelerated skeletal maturation 59 32 hallmark (90%) Very frequent (99-80%) HP:0005616

Drugs & Therapeutics for Cerebral Gigantism Jaw Cysts

Search Clinical Trials , NIH Clinical Center for Cerebral Gigantism Jaw Cysts

Genetic Tests for Cerebral Gigantism Jaw Cysts

Anatomical Context for Cerebral Gigantism Jaw Cysts

MalaCards organs/tissues related to Cerebral Gigantism Jaw Cysts:

41
Brain, Bone

Publications for Cerebral Gigantism Jaw Cysts

Variations for Cerebral Gigantism Jaw Cysts

Expression for Cerebral Gigantism Jaw Cysts

Search GEO for disease gene expression data for Cerebral Gigantism Jaw Cysts.

Pathways for Cerebral Gigantism Jaw Cysts

GO Terms for Cerebral Gigantism Jaw Cysts

Sources for Cerebral Gigantism Jaw Cysts

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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