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Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Craniosynostoses (D003398)
Parent Node: Syndactyly (D013576)
..Starting node ..Acrocephalosyndactylia (D000168)
Child Nodes:
........Acrocephalopolysyndactyly Type II (C563187)
........Cardiocranial syndrome (C535578)
........Goodman camptodactyly (C537287)
........Greig cephalopolysyndactyly syndrome (C537300)
........Maroteaux Fonfria syndrome (C536023)
........Pfeiffer type acrocephalosyndactyly (C538582)
........Robinow Sorauf syndrome (C537183)
........Saethre-Chotzen Syndrome with Eyelid Anomalies (C566325)
........Sakati syndrome (C537227)
........Summitt syndrome (C538142)
........Vogt Cephalodactyly (C566327)
Sister Nodes:
..Acrocephalosyndactylia (D000168) 11
..Aphalangia syndactyly microcephaly (C537787)
..Arterial Occlusive Disease, Progressive, with Hypertension, Heart Defects, Bone Fragility, and Brachysyndactyly (C566529)
..Aurocephalosyndactyly (C566235)
..Blepharophimosis with ptosis, syndactyly, and short stature (C536235)
..Bonneau Syndrome (C564875)
..Brachydactyly-Syndactyly Syndrome (C565193)
..Ectodermal dysplasia mental retardation syndactyly (C538018)
..ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1 (OMIM:613573)
..ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 2 (OMIM:613576)
..Eyebrows duplication of, with stretchable skin and syndactyly (C536383)
..Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome (C565436)
..Filippi syndrome (C538152)
..Frints De Smet Fabry Fryns syndrome (C538062)
..Gollop Coates syndrome (C537283)
..Green Sandford Davison syndrome (C538221)
..Kleiner Holmes syndrome (C536885)
..Kozlowski-Krajewska syndrome (C537615)
..Lacrimoauriculodentodigital syndrome (C538132)
..Landy Donnai syndrome (C537266)
..Martinez Monasterio Pinheiro syndrome (C536027)
..Naguib-Richieri-Costa syndrome (C538332)
..Oculodentodigital Dysplasia (C563160)
..Oculodentodigital Dysplasia, Autosomal Recessive (C567605)
..Oculodentoosseous dysplasia recessive (C537733)
..Orofacial Cleft 7 (C563464)
..Orstavik Lindemann Solberg syndrome (C537137)
..Pavone Fiumara Rizzo syndrome (C536313)
..Pfeiffer Rockelein syndrome (C537890)
..Piepkorn Karp Hickok syndrome (C535774)
..Poland Syndrome (D011045)
..Polydactyly, Postaxial, Type A4 (C563909)
..Polysyndactyly, Crossed (C566773)
..Popliteal Pterygium Syndrome (C562509)
..Popliteal Pterygium Syndrome, Lethal Type (C564874)
..Radio-ulnar synostosis type 1 (C536268)
..Radio-ulnar synostosis type 2 (C536269)
..Rosselli-Gulienetti Syndrome (C563117)
..Sclerosteosis (C537525)
..Scott Bryant Graham syndrome (C537528)
..Short Stature, Facial Dysmorphism, Severe Brachydactyly, and Syndactyly (C567093)
..STAPES ANKYLOSIS WITH BROAD THUMB AND TOES (OMIM:184460)
..Syndactyly Cenani Lenz type (C538150)
..Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction (C563721)
..Syndactyly, type 2 (C538153)
..Syndactyly, type 3 (C538154)
..Syndactyly, Type I (C566096)
..Syndactyly, Type IV (C566092)
..Syndactyly, type v (C538155)
..Syndactyly-Polydactyly-Earlobe Syndrome (C566091)
..Synpolydactyly 1 (C566094)
..Timothy syndrome (C536962)
..Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations (C567475)
..Trueb Burg Bottani syndrome (C536565)
..Winter Shortland Temple syndrome (C536735)
..Zerres Rietschel Majewski syndrome (C536724)
..Zlotogora-Ogur syndrome (C536726)
..Zygodactyly 1 (C565223)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

180

Name:

Acrocephalosyndactylia

Definition:

Congenital craniostenosis with syndactyly.

Alternative IDs:

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 |C05.660.207.707.249.100 |C05.660.585.800.100 |C05.660.906.364.100 |C05.660.906.819.100 |C16.131.621.207.240.100 |C16.131.621.207.707.249.100 |C16.131.621.585.800.100 |C16.131.621.906.36

Synonyms:

Slim Mappings:

Congenital abnormality|Musculoskeletal disease

Reference:

MedGen: D000168
MeSH: D000168
OMIM: 101200;

Genes: FGFR2; TWIST1;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0007343	Abnormal morphology of the limbic system
3	HP:0001331	Absent septum pellucidum
4	HP:0001061	Acne
5	HP:0004487	Acrobrachycephaly
6	HP:0001274	Agenesis of corpus callosum
7	HP:0004468	Anomalous tracheal cartilage
8	HP:0100702	Arachnoid cyst
9	HP:0007099	Arnold-Chiari type I malformation
10	HP:0000193	Bifid uvula
11	HP:0000244	Brachyturricephaly
12	HP:0008111	Broad distal hallux
13	HP:0009642	Broad distal phalanx of the thumb
14	HP:0000337	Broad forehead
15	HP:0004635	Cervical C5/C6 vertebrae fusion
16	HP:0000453	Choanal atresia
17	HP:0000452	Choanal stenosis
18	HP:0000389	Chronic otitis media
19	HP:0000175	Cleft palate
20	HP:0004440	Coronal craniosynostosis
21	HP:0000028	Cryptorchidism
22	HP:0010554	Cutaneous finger syndactyly
23	HP:0000270	Delayed cranial suture closure
24	HP:0000684	Delayed eruption of teeth
25	HP:0000689	Dental malocclusion
26	HP:0005280	Depressed nasal bridge
27	HP:0000494	Downslanted palpebral fissures
28	HP:0004397	Ectopic anus
29	HP:0002032	Esophageal atresia
30	HP:0012368	Flat face
31	HP:0001507	Growth abnormality
32	HP:0000365	Hearing impairment
33	HP:0000348	High forehead
34	HP:0003041	Humeroradial synostosis
35	HP:0000238	Hydrocephalus
36	HP:0000126	Hydronephrosis
37	HP:0000316	Hypertelorism
38	HP:0001249	Intellectual disability
39	HP:0000239	Large fontanelles
40	HP:0000272	Malar flattening
41	HP:0000303	Mandibular prognathia
42	HP:0001355	Megalencephaly
43	HP:0011800	Midface retrusion
44	HP:0000189	Narrow palate
45	HP:0002623	Overriding aorta
46	HP:0001162	Postaxial hand polydactyly	HP:0040283
47	HP:0007291	Posterior fossa cyst
48	HP:0001177	Preaxial hand polydactyly	HP:0040283
49	HP:0002021	Pyloric stenosis
50	HP:0000586	Shallow orbits
51	HP:0000486	Strabismus
52	HP:0005048	Synostosis of carpal bones
53	HP:0000148	Vaginal atresia
54	HP:0001629	Ventricular septal defect
55	HP:0002119	Ventriculomegaly

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_000141.4(FGFR2):c.758C>G (p.Pro253Arg)	2263	FGFR2	Pathogenic	77543610	RCV000014193;	N	MedGen:C0001193,OMIM:101200,ORPHA:87,SNOMED CT:205258009	10	123279674	123279674	NM_000141.4:c.758C>G	NP_000132.3:p.Pro253Arg	NC_000010.10:g.123279674G>C	OMIM Allelic Variant:176943.0011	C0001193 101200 Acrocephalosyndactyly type I
NM_000141.4(FGFR2):c.756_758delGCCinsCTT (p.Pro253Phe)	2263	FGFR2	Pathogenic	387907372	RCV000049281;	N	MedGen:C0001193,OMIM:101200,ORPHA:87,SNOMED CT:205258009	10	123279674	123279676	NM_000141.4:c.756_758delGCCinsCTT	NP_000132.3:p.Pro253Phe	NC_000010.10:g.123279674_123279676delGGCinsAAG	-	C0001193 101200 Acrocephalosyndactyly type I
NM_000141.4(FGFR2):c.755_756delCGinsTT (p.Ser252Phe)	2263	FGFR2	Pathogenic	121918498	RCV000014201;	N	MedGen:C0001193,OMIM:101200,ORPHA:87,SNOMED CT:205258009	10	123279676	123279677	NM_000141.4:c.755_756delCGinsTT	NP_000132.3:p.Ser252Phe	NC_000010.10:g.123279676_123279677delCGinsAA	OMIM Allelic Variant:176943.0017,OMIM Allelic Variant:176943.0026	C0001193 101200 Acrocephalosyndactyly type I
NM_022970.3(FGFR2):c.755C>G (p.Ser252Trp)	2263	FGFR2	Pathogenic	79184941	RCV000014192; RCV000014191;	N	MedGen:C0001193,OMIM:101200,ORPHA:87,SNOMED CT:205258009; MedGen:C0476089,OMIM:608089,SNOMED CT:254878006	10	123279677	123279677	NM_022970.3:c.755C>G	NP_075259.4:p.Ser252Trp	NC_000010.10:g.123279677G>C	OMIM Allelic Variant:176943.0010	C0001193 101200 Acrocephalosyndactyly type I; C0476089 608089 Endometrial carcinoma