MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
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Disease Browser
Parent Node:
expandCraniofacial Dysostosis (D003394)
Parent Node:
expandCraniosynostoses (D003398)
..Starting node
..expandCraniometaphyseal dysplasia, autosomal recessive type (C536570)

       Child Nodes:



 Sister Nodes: 
..expandAcrocephalosyndactylia (D000168) Child11
..expandAurocephalosyndactyly (C566235)
..expandBaraitser Rodeck Garner syndrome (C537906)
..expandBohring syndrome (C537419)
..expandBRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY (OMIM:617412)
..expandC SYNDROME (OMIM:211750)
..expandCalabro syndrome (C537960)
..expandCole Carpenter syndrome (C535963)
..expandCranioectodermal Dysplasia (C562966) Child1
..expandCraniometaphyseal dysplasia, autosomal recessive type (C536570)
..expandCRANIOSYNOSTOSIS AND DENTAL ANOMALIES (OMIM:614188)
..expandCraniosynostosis Mental Retardation Clefting Syndrome (C565663)
..expandCraniosynostosis Microcephaly with Chromosomal Breakage and Other Abnormalities (C565667)
..expandCraniosynostosis radial aplasia syndrome (C536788)
..expandCraniosynostosis Syndrome, Autosomal Recessive (C564700)
..expandCraniosynostosis with Anomalies of the Cranial Base and Digits (C565666)
..expandCraniosynostosis with Ectopia Lentis (C566357)
..expandCraniosynostosis with Fibular Aplasia (C565665)
..expandCraniosynostosis with Ocular Abnormalities and Hallucal Defects (C564263)
..expandCraniosynostosis, Adelaide Type (C563471)
..expandCraniosynostosis, anal anomalies, and porokeratosis (C536789)
..expandCraniosynostosis, Calcification of Basal Ganglia, and Facial Dysmorphism (C564241)
..expandCraniosynostosis, Philadelphia Type (C563368)
..expandCraniosynostosis, sagittal, with Dandy-Walker malformation and hydrocephalus (C536790)
..expandCraniosynostosis, Type 2 (C565753)
..expandCraniosynostosis-Mental Retardation Syndrome of Lin and Gettig (C565664)
..expandCraniotelencephalic dysplasia (C535597)
..expandCutis Gyrata Syndrome of Beare And Stevenson (C565129)
..expandFine-Lubinsky syndrome (C537933)
..expandFurlong syndrome (C538192)
..expandGenoa syndrome (C537684)
..expandHordnes Engebretsen Knudtson syndrome (C536067)
..expandHunter-McAlpine syndrome (C536072)
..expandIida Kannari syndrome (C536284)
..expandJackson-Weiss syndrome (C537559)
..expandKleeblattschaedel syndrome (C536884)
..expandLowry Maclean syndrome (C537037)
..expandMehta Lewis Patton syndrome (C536147)
..expandMuenke Syndrome (C537369)
..expandOculopalatoskeletal syndrome (C537738)
..expandOpitz trigonocephaly syndrome (C537418)
..expandPfeiffer Tietze Welte syndrome (C537891)
..expandPiepkorn Karp Hickok syndrome (C535774)
..expandPlagiocephaly and X-linked mental retardation (C537512)
..expandPolycystic Kidney Disease, Potter Type I, with Microbrachycephaly, Hypertelorism, and Brachymelia (C564881)
..expandScaphocephaly, Maxillary Retrusion, And Mental Retardation (C566511)
..expandShprintzen Golberg craniosynostosis (C537328)
..expandSkeletal dysplasia, San Diego type (C536670)
..expandSpondyloepiphyseal Dysplasia With Coronal Craniosynostosis, Cataracts, Cleft Palate, And Mental Retardation (C566515)
..expandTrigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet (C564759)
..expandTrigonocephaly, Nonsyndromic (C562951)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:3137
Name:Craniometaphyseal dysplasia, autosomal recessive type
Definition:
Alternative IDs:OMIM:218400
ParentIDs:MESH:D003394|MESH:D003398
TreeNumbers:C05.116.099.370.231/C536570 |C05.116.099.370.894.232/C536570 |C05.660.207.231/C536570 |C05.660.207.240/C536570 |C05.660.906.364/C536570 |C16.131.621.207.231/C536570 |C16.131.621.207.240/C536570 |C16.131.621.906.364/C536570
Synonyms:Autosomal Recessive Craniometaphyseal Dysplasia |CMDR |Craniometaphyseal Dysplasia, Autosomal Recessive
Slim Mappings:Congenital abnormality|Musculoskeletal disease
Reference: MedGen: C536570
MeSH: C536570
OMIM: 218400;
MSeqDR LSDB:  
Genes: GJA1;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0001739Abnormality of the nasopharynx
3 HP:0000765Abnormality of the thorax
4 HP:0004407Bony paranasal bossing
5 HP:0000187Broad alveolar ridges
6 HP:0006384Club-shaped distal femur
7 HP:0000280Coarse facial features
8 HP:0000696Delayed eruption of permanent teeth
9 HP:0005465Facial hyperostosis
10 HP:0010628Facial palsy
11 HP:0003015Flared metaphysis
12 HP:0000316Hypertelorism
13 HP:0000256Macrocephaly
14 HP:0000303Mandibular prognathia
15 HP:0100255Metaphyseal dysplasia
16 HP:0000410Mixed hearing impairment
17 HP:0001742Nasal obstruction
18 HP:0000648Optic atrophy
19 HP:0009772Patchy sclerosis of finger phalanx
20 HP:0000506Telecanthus
21 HP:0000431Wide nasal bridge
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_000165.5(GJA1):c.716G>A (p.Arg239Gln)2697GJA1Conflicting interpretations of pathogenicity764670582RCV000185622|RCV000513765|RCV001853081; NMONDO:MONDO:0009035,MedGen:C2931244,OMIM:218400, Orphanet:1522|MedGen:C3661900|MONDO:MONDO:0009768,MedGen:C2749477,OMIM:257850, Orphanet:271061217687091217687096:g.121768709G>AClinGen:CA203900,UniProtKB:P17302#VAR_070441,OMIM:121014.0021C2931244 218400 Craniometaphyseal dysplasia, autosomal recessive type;
MSeqDR Portal