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 54
Cerebral Gigantism-Jaw Cysts Syndrome 60
Cramer Niederdellmann Syndrome 54
Cramer-Niederdellmann Syndrome 60

Characteristics:

Orphanet epidemiological data:

60
cerebral gigantism-jaw cysts syndrome
Prevalence: <1/1000000 (Worldwide);

Classifications:



Summaries for Cerebral Gigantism Jaw Cysts

NIH Rare Diseases : 54 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 eeg abnormality

Related Diseases for Cerebral Gigantism Jaw Cysts

Symptoms & Phenotypes for Cerebral Gigantism Jaw Cysts

Human phenotypes related to Cerebral Gigantism Jaw Cysts:

60 33 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0000256
2 eeg abnormality 60 33 hallmark (90%) Very frequent (99-80%) HP:0002353
3 cerebral calcification 60 33 hallmark (90%) Very frequent (99-80%) HP:0002514
4 bone cyst 60 33 hallmark (90%) Very frequent (99-80%) HP:0012062
5 tall stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0000098
6 accelerated skeletal maturation 60 33 hallmark (90%) Very frequent (99-80%) HP:0005616
7 ataxia 60 33 frequent (33%) Frequent (79-30%) HP:0001251

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:

42
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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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