MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
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Disease Browser
Parent Node:
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Craniosynostoses (D003398)
Parent Node:
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Syndactyly (D013576)
..Starting node
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Acrocephalosyndactylia (D000168)

       Child Nodes:
........expandAcrocephalopolysyndactyly Type II (C563187)
........expandCardiocranial syndrome (C535578)
........expandGoodman camptodactyly (C537287)
........expandGreig cephalopolysyndactyly syndrome (C537300)
........expandMaroteaux Fonfria syndrome (C536023)
........expandPfeiffer type acrocephalosyndactyly (C538582)
........expandRobinow Sorauf syndrome (C537183)
........expandSaethre-Chotzen Syndrome with Eyelid Anomalies (C566325)
........expandSakati syndrome (C537227)
........expandSummitt syndrome (C538142)
........expandVogt Cephalodactyly (C566327)



 Sister Nodes: 
..expandAcrocephalosyndactylia (D000168) Child11
..expandAphalangia syndactyly microcephaly (C537787)
..expandArterial Occlusive Disease, Progressive, with Hypertension, Heart Defects, Bone Fragility, and Brachysyndactyly (C566529)
..expandAurocephalosyndactyly (C566235)
..expandBlepharophimosis with ptosis, syndactyly, and short stature (C536235)
..expandBonneau Syndrome (C564875)
..expandBrachydactyly-Syndactyly Syndrome (C565193)
..expandEctodermal dysplasia mental retardation syndactyly (C538018)
..expandECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1 (OMIM:613573)
..expandECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 2 (OMIM:613576)
..expandEyebrows duplication of, with stretchable skin and syndactyly (C536383)
..expandFibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome (C565436)
..expandFilippi syndrome (C538152)
..expandFraser Syndrome (D058497)
..expandFrints De Smet Fabry Fryns syndrome (C538062)
..expandGollop Coates syndrome (C537283)
..expandGreen Sandford Davison syndrome (C538221)
..expandKleiner Holmes syndrome (C536885)
..expandKozlowski-Krajewska syndrome (C537615)
..expandLacrimoauriculodentodigital syndrome (C538132)
..expandLandy Donnai syndrome (C537266)
..expandMartinez Monasterio Pinheiro syndrome (C536027)
..expandNaguib-Richieri-Costa syndrome (C538332)
..expandOculodentodigital Dysplasia (C563160)
..expandOculodentodigital Dysplasia, Autosomal Recessive (C567605)
..expandOculodentoosseous dysplasia recessive (C537733)
..expandOrofacial Cleft 7 (C563464)
..expandOrstavik Lindemann Solberg syndrome (C537137)
..expandPavone Fiumara Rizzo syndrome (C536313)
..expandPfeiffer Rockelein syndrome (C537890)
..expandPiepkorn Karp Hickok syndrome (C535774)
..expandPoland Syndrome (D011045)
..expandPolydactyly, Postaxial, Type A4 (C563909)
..expandPolysyndactyly, Crossed (C566773)
..expandPopliteal Pterygium Syndrome (C562509)
..expandPopliteal Pterygium Syndrome, Lethal Type (C564874)
..expandRadio-ulnar synostosis type 1 (C536268)
..expandRadio-ulnar synostosis type 2 (C536269)
..expandRosselli-Gulienetti Syndrome (C563117)
..expandSclerosteosis (C537525)
..expandScott Bryant Graham syndrome (C537528)
..expandShort Stature, Facial Dysmorphism, Severe Brachydactyly, and Syndactyly (C567093)
..expandSyndactyly Cenani Lenz type (C538150)
..expandSyndactyly, Mesoaxial Synostotic, with Phalangeal Reduction (C563721)
..expandSyndactyly, type 2 (C538153)
..expandSyndactyly, type 3 (C538154)
..expandSyndactyly, Type I (C566096)
..expandSyndactyly, Type IV (C566092)
..expandSyndactyly, type v (C538155)
..expandSyndactyly-Polydactyly-Earlobe Syndrome (C566091)
..expandTimothy syndrome (C536962)
..expandToe Syndactyly, Telecanthus, and Anogenital and Renal Malformations (C567475)
..expandTrueb Burg Bottani syndrome (C536565)
..expandWinter Shortland Temple syndrome (C536735)
..expandZerres Rietschel Majewski syndrome (C536724)
..expandZlotogora-Ogur syndrome (C536726)
..expandZygodactyly 1 (C565223)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:189
Name:Acrocephalosyndactylia
Definition:Congenital craniostenosis with syndactyly.
Alternative IDs:DO:DOID:12960|DO:DOID:14705|DO:DOID:14768|OMIM:101200|OMIM:101400
ParentIDs:MESH:D003398|MESH:D013576
TreeNumbers:C05.116.099.370.894.232.015 |C05.116.099.370.894.819.100 |C05.660.207.240.100 |C05.660.585.800.100 |C05.660.906.364.100 |C05.660.906.819.100 |C16.131.621.207.240.100 |C16.131.621.585.800.100 |C16.131.621.906.364.100 |C16.131.621.906.819.100
Synonyms:Acrocephalosyndactylias |Acrocephalosyndactylies, Type 1 |Acrocephalosyndactylies, Type 3 |Acrocephalosyndactylies, Type I |Acrocephalosyndactylies, Type II |Acrocephalosyndactylies, Type III |Acrocephalosyndactylies, Type V |Acrocephalosyndactyly (Apert) |Acroc
Slim Mappings:Congenital abnormality|Musculoskeletal disease
Reference: MedGen: D000168
MeSH: D000168
OMIM: 101200;
MSeqDR LSDB:  
Genes: FGFR2; TWIST1;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0007343Abnormal morphology of the limbic system
3 HP:0001331Absent septum pellucidum
4 HP:0001061Acne
5 HP:0004487Acrobrachycephaly
6 HP:0001274Agenesis of corpus callosum
7 HP:0004468Anomalous tracheal cartilage
8 HP:0100702Arachnoid cyst
9 HP:0007099Arnold-Chiari type I malformation
10 HP:0000193Bifid uvula
11 HP:0000244Brachyturricephaly
12 HP:0008111Broad distal hallux
13 HP:0009642Broad distal phalanx of the thumb
14 HP:0000337Broad forehead
15 HP:0004635Cervical C5/C6 vertebrae fusion
16 HP:0000453Choanal atresia
17 HP:0000452Choanal stenosis
18 HP:0000389Chronic otitis media
19 HP:0000175Cleft palate
20 HP:0004440Coronal craniosynostosis
21 HP:0000028Cryptorchidism
22 HP:0010554Cutaneous finger syndactyly
23 HP:0000270Delayed cranial suture closure
24 HP:0000684Delayed eruption of teeth
25 HP:0000689Dental malocclusion
26 HP:0005280Depressed nasal bridge
27 HP:0000494Downslanted palpebral fissures
28 HP:0004397Ectopic anus
29 HP:0002032Esophageal atresia
30 HP:0012368Flat face
31 HP:0001507Growth abnormality
NAMDC:  Constitutional
32 HP:0000365Hearing impairment
33 HP:0000348High forehead
34 HP:0003041Humeroradial synostosis
35 HP:0000238Hydrocephalus
36 HP:0000126Hydronephrosis
37 HP:0000316Hypertelorism
38 HP:0001249Intellectual disability
39 HP:0000239Large fontanelles
40 HP:0000272Malar flattening
41 HP:0000303Mandibular prognathia
42 HP:0001355Megalencephaly
43 HP:0011800Midface retrusion
44 HP:0000189Narrow palate
45 HP:0002623Overriding aorta
46 HP:0001162Postaxial hand polydactylyHP:0040283
47 HP:0007291Posterior fossa cyst
48 HP:0001177Preaxial hand polydactylyHP:0040283
49 HP:0002021Pyloric stenosis
50 HP:0000586Shallow orbits
51 HP:0000486Strabismus
52 HP:0005048Synostosis of carpal bones
53 HP:0000148Vaginal atresia
54 HP:0001629Ventricular septal defect
55 HP:0002119Ventriculomegaly
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_000141.5(FGFR2):c.*1498_*1502del2263FGFR2Likely benignrs566259479RCV000287957|RCV000291506|RCV000313921|RCV000322912|RCV000345308|RCV000348873|RCV000379787|RCV000383456|RCV000394480; NMONDO:MONDO:0007412,MedGen:C1852406,OMIM:123790, Orphanet:1555|MONDO:MONDO:0007400,MedGen:C0795998,OMIM:123150, Orphanet:1540|MONDO:MONDO:0007041,MedGen:C0001193,OMIM:101200, Orphanet:87|MONDO:MONDO:0007872,MedGen:C0265269,OMIM:149730, Orphanet:2363|MONDO:M10123237869123237873ATTTATA10:g.123237869_123237873delClinGen:CA10628102
NM_000141.5(FGFR2):c.*736dup2263FGFR2Uncertain significancers886046762RCV000266721|RCV000303069|RCV000306624|RCV000309997|RCV000346095|RCV000357969|RCV000361332|RCV000398207|RCV000398211; NMedGen:CN043619|MONDO:MONDO:0007412,MedGen:C1852406,OMIM:123790, Orphanet:1555|MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710|MONDO:MONDO:0007041,MedGen:C0001193,OMIM:101200, Orphanet:87|MONDO:MONDO:0007400,MedGen:C0795998,OMIM:123150,Orphan10123238634123238635CCT10:g.123238634_123238635insTClinGen:CA10631068
NM_000141.5(FGFR2):c.*641_*644del2263FGFR2Likely benignrs548465887RCV000285303|RCV000291375|RCV000302982|RCV000342660|RCV000343940|RCV000355448|RCV000389928|RCV000396781|RCV000404772; NMONDO:MONDO:0007042,MedGen:C0175699,OMIM:101400, Orphanet:794|MONDO:MONDO:0007872,MedGen:C0265269,OMIM:149730, Orphanet:2363|MONDO:MONDO:0007412,MedGen:C1852406,OMIM:123790, Orphanet:1555|MONDO:MONDO:0007041,MedGen:C0001193,OMIM:101200, Orphanet:87|Human Ph10123238727123238730GATTAG10:g.123238727_123238730delClinGen:CA10631069
NM_022970.3(FGFR2):c.1087+1366A>G2263FGFR2Pathogenicrs879253721RCV000014225|RCV000014226|RCV001254178; NMONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710|Human Phenotype Ontology:HP:0004439,MONDO:MONDO:0007405,MeSH:D003394,MedGen:C0010273,OMIM:123500, Orphanet:207|MONDO:MONDO:0007041,MedGen:C0001193,OMIM:101200, Orphanet:87; MONDO:MONDO:0007043,Me10123276830123276830TC10:g.123276830T>CClinGen:CA10575520,OMIM:176943.0038
NM_000141.5(FGFR2):c.758C>G (p.Pro253Arg)2263FGFR2Pathogenicrs77543610RCV000014193|RCV000436870|RCV000489611|RCV000532721|RCV000762803|RCV001197223; NMONDO:MONDO:0007041,MedGen:C0001193,OMIM:101200, Orphanet:87|MONDO:MONDO:0005586,MeSH:D006258,MedGen:C0018671|MedGen:CN517202|MedGen:CN231480|11 conditions|MONDO:MONDO:0020667,MedGen:C2936791,OMIM:207410, Orphanet:8310123279674123279674GC10:g.123279674G>CClinGen:CA280174,UniProtKB:P21802#VAR_004117,OMIM:176943.0011C0001193 101200 Acrocephalosyndactyly type I;
NM_000141.5(FGFR2):c.756_758delinsCTT (p.Pro253Phe)2263FGFR2Pathogenicrs387907372RCV000049281; NMONDO:MONDO:0007041,MedGen:C0001193,OMIM:101200, Orphanet:8710123279674123279676GGCAAGNC_000010.10:g.123279674_123279676delinsAAGClinGen:CA280311C0001193 101200 Acrocephalosyndactyly type I;
NM_000141.5(FGFR2):c.758C>T (p.Pro253Leu)2263FGFR2Conflicting interpretations of pathogenicityrs77543610RCV001029732|RCV001228029|RCV001266231; NMONDO:MONDO:0007041,MedGen:C0001193,OMIM:101200, Orphanet:87|MedGen:CN231480|MeSH:D030342,MedGen:C095012310123279674123279674GA10:g.123279674G>A-
NM_000141.5(FGFR2):c.755_756delinsTT (p.Ser252Phe)2263FGFR2Likely pathogenicrs121918498RCV000014201; NMONDO:MONDO:0007041,MedGen:C0001193,OMIM:101200, Orphanet:8710123279676123279677CGAANC_000010.10:g.123279676_123279677delinsAAClinGen:CA280180,OMIM:176943.0017C0001193 101200 Acrocephalosyndactyly type I;
NM_000141.5(FGFR2):c.755C>G (p.Ser252Trp)2263FGFR2Pathogenicrs79184941RCV000014191|RCV000014192|RCV000263144|RCV000422979|RCV000431027|RCV000433250|RCV000433942|RCV000438603|RCV000440715|RCV000552015|RCV000762804; NMONDO:MONDO:0007041,MedGen:C0001193,OMIM:101200, Orphanet:87|Human Phenotype Ontology:HP:0012114,MONDO:MONDO:0002447,MedGen:C0476089,OMIM:608089|MedGen:CN517202|MedGen:C0153574|MedGen:C0279763|MedGen:C0280630|MONDO:MONDO:0019796,MeSH:D000168,MedGen:C151010123279677123279677GC10:g.123279677G>CClinGen:CA122985,UniProtKB:P21802#VAR_004115,OMIM:176943.0010C1510455 Acrocephalosyndactyly;
NM_022970.3(FGFR2):c.110-22TC[3]2263FGFR2Uncertain significancers773932794RCV000261993|RCV000267981|RCV000275299|RCV000311649|RCV000317100|RCV000323000|RCV000356791|RCV000371758|RCV000377753; NMedGen:CN043619|MONDO:MONDO:0007400,MedGen:C0795998,OMIM:123150, Orphanet:1540|MONDO:MONDO:0007041,MedGen:C0001193,OMIM:101200, Orphanet:87|MONDO:MONDO:0007872,MedGen:C0265269,OMIM:149730, Orphanet:2363|MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600,Orpha10123325233123325234GGAG10:g.123325233_123325234delClinGen:CA5721218
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