MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO
Term ID:4143
Name:Endocrine-Cerebroosteodysplasia
Definition:
Alternative IDs:OMIM:612651
ParentIDs:MESH:D002493|MESH:D004700
TreeNumbers:C10.228/C567210 |C19/C567210
Synonyms:ECO
Slim Mappings:Endocrine system disease|Nervous system disease
Reference: MedGen: C567210
MeSH: C567210
OMIM: 612651;
MSeqDR LSDB:  
Genes: ICK;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0000377Abnormality of the pinna
3 HP:0000835Adrenal hypoplasia
4 HP:0000062Ambiguous genitalia
5 HP:0007370Aplasia/Hypoplasia of the corpus callosum
6 HP:0001552Barrel-shaped chest
7 HP:0001156Brachydactyly
8 HP:0000175Cleft palate
9 HP:0000204Cleft upper lip
10 HP:0000028Cryptorchidism
11 HP:0000437Depressed nasal tip
12 HP:0001360Holoprosencephaly
13 HP:0000238Hydrocephalus
14 HP:0000047Hypospadias
15 HP:0000369Low-set ears
16 HP:0000272Malar flattening
17 HP:0000347Micrognathia
18 HP:0002983Micromelia
19 HP:0000054Micropenis
20 HP:0030260Microphallus
21 HP:0011800Midface retrusion
22 HP:0010442Polydactyly
23 HP:0100259Postaxial polydactyly
24 HP:0001852Sandal gap
25 HP:0000046Scrotal hypoplasia
26 HP:0000914Shield chest
27 HP:0001159Syndactyly
28 HP:0009487Ulnar deviation of the hand
29 HP:0001193Ulnar deviation of the hand or of fingers of the hand
30 HP:0002119Ventriculomegaly
31 HP:0006610Wide intermamillary distance
32 HP:0000431Wide nasal bridge
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_014920.4(CILK1):c.815G>A (p.Arg272Gln)22858CILK1Pathogenicrs118203918RCV000000672; NMONDO:MONDO:0012980,MedGen:C2675227,OMIM:612651, Orphanet:19933265288089752880897CT6:g.52880897C>TClinGen:CA114374,UniProtKB:Q9UPZ9#VAR_057994,OMIM:612325.0001
NM_014920.4(CILK1):c.358G>T (p.Gly120Cys)22858CILK1Pathogenicrs1157785470RCV000766214; NMONDO:MONDO:0012980,MedGen:C2675227,OMIM:612651, Orphanet:19933265289586352895863CA6:g.52895863C>AOMIM:612325.0006
MSeqDR Portal