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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Term ID:3731
Name:Encephalocraniocutaneous lipomatosis
Definition:
Alternative IDs:
ParentIDs:MESH:D005128|MESH:D008068|MESH:D020752
TreeNumbers:C10.562/C535736 |C11/C535736 |C16.131.077.350.712/C535736 |C16.131.831.350.712/C535736 |C16.320.850.250.712/C535736 |C17.800.463/C535736 |C17.800.804.350.712/C535736 |C17.800.827.250.712/C535736 |C18.452.584.718/C535736
Synonyms:Fishman syndrome
Slim Mappings:Congenital abnormality|Eye disease|Genetic disease (inborn)|Metabolic disease|Nervous system disease|Skin disease
Reference: MedGen: C535736
MeSH: C535736
OMIM: 613001;

Genes:
Phenotypes
1 HP:0000593Abnormal anterior chamber morphology
2 HP:0001274Agenesis of corpus callosum
3 HP:0001596Alopecia
4 HP:0100702Arachnoid cyst
5 HP:0001631Atrial septal defect
6 HP:0001321Cerebellar hypoplasia
7 HP:0002539Cortical dysplasia
8 HP:0000028Cryptorchidism
9 HP:0001305Dandy-Walker malformation
10 HP:0000625Eyelid coloboma
11 HP:0001263Global developmental delay
12 HP:0000238Hydrocephalus
13 HP:0000126Hydronephrosis
14 HP:0002079Hypoplasia of the corpus callosum
15 HP:0007676Hypoplasia of the iris
16 HP:0001140Limbal dermoid
17 HP:0007546Linear hyperpigmentation
18 HP:0012032Lipoma
19 HP:0000568Microphthalmia
20 HP:0100251Multiple central nervous system lipomas
21 HP:0000125Pelvic kidney
22 HP:0004969Peripheral pulmonary artery stenosis
23 HP:0000647Sclerocornea
24 HP:0001250Seizure
25 HP:0001442Somatic mosaicism
26 HP:0003745Sporadic
27 HP:0001031Subcutaneous lipoma
28 HP:0001682Subvalvular aortic stenosis
29 HP:0001629Ventricular septal defect
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVarDisease_hgmd
NM_023110.2(FGFR1):c.1966A>G (p.Lys656Glu)2260FGFR1Pathogenic869320694RCV000210479; NMedGen:C0406612,OMIM:613001,ORPHA:2396,SNOMED CT:23890500983827230838272308NM_023110.2:c.1966A>GNP_075598.2:p.Lys656GluNC_000008.10:g.38272308T>COMIM Allelic Variant:136350.0034C0406612 613001 Encephalocraniocutaneous lipomatosis
NM_023110.2(FGFR1):c.1638C>A (p.Asn546Lys)2260FGFR1Pathogenic779707422RCV000210485; NMedGen:C0406612,OMIM:613001,ORPHA:2396,SNOMED CT:23890500983827484938274849NM_023110.2:c.1638C>ANP_075598.2:p.Asn546LysNC_000008.10:g.38274849G>TOMIM Allelic Variant:136350.0033C0406612 613001 Encephalocraniocutaneous lipomatosis