MSeqDR Mitochondrial Disease Portal


 
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Disease Browser
Parent Node:
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Mandibulofacial Dysostosis (D008342)
..Starting node
..expand
Acromelic Frontonasal Dysostosis (C566345)

       Child Nodes:



 Sister Nodes: 
..expandAcrofacial dysostosis Catania form (C538182)
..expandAcrofacial dysostosis Rodriguez type (C538183)
..expandACROFACIAL DYSOSTOSIS, CINCINNATI TYPE (OMIM:616462)
..expandAcrofacial dysostosis, Nager type (C538184)
..expandAcrofacial dysostosis, Palagonia type (C538185)
..expandAcrofrontofacionasal dysostosis syndrome (C538186)
..expandAcromelic Frontonasal Dysostosis (C566345)
..expandBranchial arch syndrome X-linked (C537102)
..expandDIAMOND-BLACKFAN ANEMIA 14 WITH MANDIBULOFACIAL DYSOSTOSIS (OMIM:300946)
..expandDIAMOND-BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS (OMIM:606164)
..expandGenee-Wiedemann syndrome (C537680)
..expandGoldenhar Syndrome (D006053) Child1
..expandGrowth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate (C537405)
..expandMANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA (OMIM:616367)
..expandMandibulofacial Dysostosis with Mental Deficiency (C565420)
..expandMandibulofacial Dysostosis with Ptosis, Autosomal Dominant (C564267)
..expandMANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE (OMIM:610536)
..expandMandibulofacial dysostosis, Treacher Collins type, autosomal recessive (C535707)
..expandOpitz Reynolds Fitzgerald syndrome (C535713)
..expandPatterson Stevenson syndrome (C536311) Child1
..expandRichieri Costa Guion-Almeida syndrome (C535676)
..expandTREACHER COLLINS SYNDROME 2 (OMIM:613717)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:209
Name:Acromelic Frontonasal Dysostosis
Definition:
Alternative IDs:DO:DOID:0060342|OMIM:603671
ParentIDs:MESH:D008342
TreeNumbers:C05.116.099.370.231.576/C566345 |C05.660.207.231.576/C566345 |C11.270.147.750/C566345 |C16.131.621.207.231.576/C566345
Synonyms:AFND
Slim Mappings:Congenital abnormality|Eye disease|Musculoskeletal disease
Reference: MedGen: C566345
MeSH: C566345
OMIM: 603671;
MSeqDR LSDB:  
Genes: ZSWIM6;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0001274Agenesis of corpus callosum
3 HP:0011803Bifid nose
4 HP:0000248Brachycephaly
5 HP:0000455Broad nasal tip
6 HP:0002190Choroid plexus cyst
7 HP:0000175Cleft palate
8 HP:0000204Cleft upper lip
9 HP:0000028CryptorchidismHP:0040283
10 HP:0002084Encephalocele
11 HP:0000501GlaucomaHP:0040283
12 HP:0000316Hypertelorism
13 HP:0040075HypopituitarismHP:0040283
14 HP:0002079Hypoplasia of the corpus callosum
15 HP:0001249Intellectual disability
16 HP:0002690Large sella turcica
17 HP:0004122Midline defect of the nose
18 HP:0000545MyopiaHP:0040283
19 HP:0010442Polydactyly
20 HP:0100258Preaxial polydactyly
21 HP:0000508Ptosis
NAMDC:  Ptosis
HP:0040283
22 HP:0006951Retrocerebellar cyst
23 HP:0001250Seizures
NAMDC:  Seizures
24 HP:0001159Syndactyly
25 HP:0001762Talipes equinovarus
26 HP:0000506Telecanthus
27 HP:0001805Thick nail
28 HP:0010806U-Shaped upper lip vermilionHP:0040283
29 HP:0002781Upper airway obstructionHP:0040283
30 HP:0002119Ventriculomegaly
31 HP:0010559Vertical clivusHP:0040283
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_020928.2(ZSWIM6):c.151GCG[7] (p.Ala56dup)57688ZSWIM6Uncertain significance-1RCV001198461; NMONDO:MONDO:0011359,MedGen:C1863616,OMIM:603671, Orphanet:182756062824960628250CCGCG5:g.60628249_60628250insGCG-
NM_020928.2(ZSWIM6):c.440_454del (p.Ala147_Gly151del)57688ZSWIM6Uncertain significancers772099709RCV000662182; NMONDO:MONDO:0011359,MedGen:C1863616,OMIM:603671, Orphanet:182756062852660628540TGGCGGCGGCGGCGCGT5:g.60628526_60628540del-
NM_020928.2(ZSWIM6):c.1906G>A (p.Val636Met)57688ZSWIM6Benignrs140760439RCV000709778|RCV000964469; NMONDO:MONDO:0011359,MedGen:C1863616,OMIM:603671, Orphanet:1827|MedGen:CN51720256082594760825947GA5:g.60825947G>A-
NM_020928.2(ZSWIM6):c.3487C>T (p.Arg1163Trp)57688ZSWIM6Pathogenic/Likely pathogenicrs587777695RCV000143865|RCV000478201|RCV000624254; NMONDO:MONDO:0011359,MedGen:C1863616,OMIM:603671, Orphanet:1827|MedGen:CN517202|MeSH:D030342,MedGen:C095012356083998360839983CT5:g.60839983C>TClinGen:CA170707,UniProtKB:Q9HCJ5#VAR_071802,OMIM:615951.0001
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