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	syndactyly

Disease ID	1251
Disease	syndactyly
Definition	A congenital anomaly of the hand or foot, marked by the webbing between adjacent fingers or toes. Syndactylies are classified as complete or incomplete by the degree of joining. Syndactylies can also be simple or complex. Simple syndactyly indicates joining of only skin or soft tissue; complex syndactyly marks joining of bony elements.
Synonym	congenital webbing of digits symphalangism symphalangism (disorder) symphalangy symphalangy (disorder) syndactylia syndactylias syndactylies syndactylism syndactylus syndactyly (disorder) syndactyly [disease/finding] syndactyly nos syndactyly nos (disorder) webbed digits webbed fingers or toes webbing of digits
Orphanet	ORPHANET:90025
DOID	DOID:11193
UMLS	C0039075
MeSH	D013576
SNOMED-CT	SNOMEDCT_US_2016_09_01:373413006
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:8) C0010278 \| craniosynostosis \| 1 C0152096 \| trisomy 18 \| 1 C0265301 \| sclerosteosis \| 1 C0029899 \| otosclerosis \| 1 C0042870 \| vitamin d defic \| 1 C0003090 \| ankylosis \| 1 C0042870 \| vitamin d deficiency \| 1 C0013575 \| ectodermal dysplasia \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:7) 8322 \| FZD4 \| CTD_human 92002 \| FAM58A \| UNIPROT 2697 \| GJA1 \| UNIPROT 3239 \| HOXD13 \| UNIPROT 4038 \| LRP4 \| CTD_human 3714 \| JAG2 \| CTD_human 2192 \| FBLN1 \| UNIPROT
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:123) 51099 \| ABHD5 \| 1.203 \| DISEASES 93 \| ACVR2B \| 1.186 \| DISEASES 80070 \| ADAMTS20 \| 3.832 \| DISEASES 56999 \| ADAMTS9 \| 2.515 \| DISEASES 220 \| ALDH1A3 \| 1.256 \| DISEASES 257 \| ALX3 \| 1.948 \| DISEASES 60529 \| ALX4 \| 2.993 \| DISEASES 162282 \| ANKFN1 \| 3.461 \| DISEASES 2909 \| ARHGAP35 \| 1.654 \| DISEASES 415 \| ARSE \| 1.8 \| DISEASES 444 \| ASPH \| 1.099 \| DISEASES 23545 \| ATP6V0A2 \| 1.232 \| DISEASES 26033 \| ATRNL1 \| 3.179 \| DISEASES 54880 \| BCOR \| 1.913 \| DISEASES 727857 \| BHLHA9 \| 4.319 \| DISEASES 650 \| BMP2 \| 2.37 \| DISEASES 655 \| BMP7 \| 2.727 \| DISEASES 8945 \| BTRC \| 1.877 \| DISEASES 339210 \| C17orf67 \| 3.493 \| DISEASES 146059 \| CDAN1 \| 2.462 \| DISEASES 8558 \| CDK10 \| 3.067 \| DISEASES 375298 \| CERKL \| 2.044 \| DISEASES 1106 \| CHD2 \| 2.374 \| DISEASES 91851 \| CHRDL1 \| 2.036 \| DISEASES 1147 \| CHUK \| 1.8 \| DISEASES 594855 \| CPLX3 \| 1.03 \| DISEASES 9946 \| CRYZL1 \| 1.855 \| DISEASES 1499 \| CTNNB1 \| 1.142 \| DISEASES 8450 \| CUL4B \| 1.664 \| DISEASES 1718 \| DHCR24 \| 1.007 \| DISEASES 1717 \| DHCR7 \| 4.478 \| DISEASES 9704 \| DHX34 \| 3.126 \| DISEASES 1741 \| DLG3 \| 1.408 \| DISEASES 1745 \| DLX1 \| 4.006 \| DISEASES 1750 \| DLX6 \| 3.476 \| DISEASES 25911 \| DPCD \| 2.776 \| DISEASES 1812 \| DRD1 \| 1.841 \| DISEASES 79659 \| DYNC2H1 \| 2.019 \| DISEASES 10682 \| EBP \| 2.505 \| DISEASES 9343 \| EFTUD2 \| 1.794 \| DISEASES 2045 \| EPHA7 \| 2.39 \| DISEASES 132884 \| EVC2 \| 1.147 \| DISEASES 92002 \| FAM58A \| 5.075 \| DISEASES 2192 \| FBLN1 \| 3.192 \| DISEASES 2200 \| FBN1 \| 2.377 \| DISEASES 6468 \| FBXW4 \| 4.885 \| DISEASES 2258 \| FGF13 \| 1.57 \| DISEASES 2253 \| FGF8 \| 4.322 \| DISEASES 2254 \| FGF9 \| 3.039 \| DISEASES 2260 \| FGFR1 \| 3.264 \| DISEASES 2263 \| FGFR2 \| 5.466 \| DISEASES 2261 \| FGFR3 \| 2.465 \| DISEASES 2317 \| FLNB \| 1.106 \| DISEASES 342184 \| FMN1 \| 1.475 \| DISEASES 3607 \| FOXK2 \| 2.052 \| DISEASES 158326 \| FREM1 \| 4.726 \| DISEASES 166752 \| FREM3 \| 3.401 \| DISEASES 8200 \| GDF5 \| 4.374 \| DISEASES 57165 \| GJC2 \| 1.276 \| DISEASES 2737 \| GLI3 \| 4.407 \| DISEASES 23426 \| GRIP1 \| 2.771 \| DISEASES 9464 \| HAND2 \| 1.537 \| DISEASES 3108 \| HLA-DMA \| 1.145 \| DISEASES 3231 \| HOXD1 \| 3.208 \| DISEASES 3238 \| HOXD12 \| 4.228 \| DISEASES 3239 \| HOXD13 \| 6.674 \| DISEASES 3433 \| IFIT2 \| 1.663 \| DISEASES 3481 \| IGF2 \| 1.722 \| DISEASES 3664 \| IRF6 \| 3.028 \| DISEASES 3735 \| KARS \| 1.347 \| DISEASES 3753 \| KCNE1 \| 1.381 \| DISEASES 3778 \| KCNMA1 \| 1.497 \| DISEASES 374654 \| KIF7 \| 2.779 \| DISEASES 10660 \| LBX1 \| 2.037 \| DISEASES 64327 \| LMBR1 \| 4.978 \| DISEASES 4038 \| LRP4 \| 4.288 \| DISEASES 4212 \| MEIS2 \| 1.839 \| DISEASES 56917 \| MEIS3 \| 2.656 \| DISEASES 145282 \| MIPOL1 \| 4.112 \| DISEASES 4487 \| MSX1 \| 3.498 \| DISEASES 4626 \| MYH8 \| 1.819 \| DISEASES 4649 \| MYO9A \| 2.419 \| DISEASES 23327 \| NEDD4L \| 2.075 \| DISEASES 4750 \| NEK1 \| 3.139 \| DISEASES 9241 \| NOG \| 5.258 \| DISEASES 4861 \| NPAS1 \| 2.518 \| DISEASES 255743 \| NPNT \| 2.203 \| DISEASES 8481 \| OFD1 \| 2.407 \| DISEASES 5136 \| PDE1A \| 2.169 \| DISEASES 84295 \| PHF6 \| 1.396 \| DISEASES 5586 \| PKN2 \| 1.455 \| DISEASES 64840 \| PORCN \| 3.929 \| DISEASES 144165 \| PRICKLE1 \| 1.888 \| DISEASES 5727 \| PTCH1 \| 1.698 \| DISEASES 51715 \| RAB23 \| 1.639 \| DISEASES 54101 \| RIPK4 \| 2.821 \| DISEASES 4920 \| ROR2 \| 4.286 \| DISEASES 860 \| RUNX2 \| 1.611 \| DISEASES 9037 \| SEMA5A \| 1.652 \| DISEASES 89874 \| SLC25A21 \| 2.746 \| DISEASES 4090 \| SMAD5 \| 1.299 \| DISEASES 64093 \| SMOC1 \| 4.171 \| DISEASES 6622 \| SNCA \| 1.436 \| DISEASES 6080 \| SNORA73A \| 2.014 \| DISEASES 6658 \| SOX3 \| 1.262 \| DISEASES 55553 \| SOX6 \| 1.348 \| DISEASES 80320 \| SP6 \| 1.053 \| DISEASES 221833 \| SP8 \| 2.022 \| DISEASES 6736 \| SRY \| 1.258 \| DISEASES 64220 \| STRA6 \| 1.541 \| DISEASES 342898 \| SYCN \| 2.079 \| DISEASES 6888 \| TALDO1 \| 1.293 \| DISEASES 50945 \| TBX22 \| 2.383 \| DISEASES 6938 \| TCF12 \| 1.449 \| DISEASES 117145 \| THEM4 \| 1.333 \| DISEASES 3195 \| TLX1 \| 2.033 \| DISEASES 100038246 \| TLX1NB \| 1.689 \| DISEASES 55273 \| TMEM100 \| 2.585 \| DISEASES 55503 \| TRPV6 \| 1.959 \| DISEASES 25844 \| YIPF3 \| 2.1 \| DISEASES 55249 \| YY1AP1 \| 2.805 \| DISEASES 79776 \| ZFHX4 \| 2.46 \| DISEASES 151126 \| ZNF385B \| 2.67 \| DISEASES
Locus	(Waiting for update.)

Disease ID	1251
Disease	syndactyly
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:35) HP:0010442 \| Polydactyly \| 5 HP:0100257 \| Cleft hand \| 3 HP:0002664 \| Neoplasia \| 1 HP:0011800 \| Midface, flat \| 1 HP:0000776 \| Diaphragmatic hernia \| 1 HP:0001363 \| Early fusion of cranial sutures \| 1 HP:0000381 \| Stapes ankylosis \| 1 HP:0001171 \| Hand ectrodactyly \| 1 HP:0011297 \| Abnormality of digit \| 1 HP:0003067 \| Madelung wrist deformity \| 1 HP:0100260 \| Central polydactyly \| 1 HP:0000924 \| Abnormality of the skeletal system \| 1 HP:0001822 \| Hallux valgus \| 1 HP:0000773 \| Rib hypoplasia \| 1 HP:0000362 \| Otosclerosis \| 1 HP:0001177 \| Preaxial hand polydactyly \| 1 HP:0000689 \| Misalignment of upper and lower dental arches \| 1 HP:0007943 \| Congenital stapes ankylosis \| 1 HP:0100790 \| Hernia \| 1 HP:0009826 \| limb shortening \| 1 HP:0100259 \| Postaxial hexadactyly \| 1 HP:0001999 \| Facial dysmorphism \| 1 HP:0002414 \| Spina bifida \| 1 HP:0009702 \| Fused carpal bones \| 1 HP:0003298 \| Spina bifida occulta \| 1 HP:0100512 \| Vitamin D deficiency \| 1 HP:0012165 \| Oligodactyly \| 1 HP:0002983 \| Micromelia \| 1 HP:0002370 \| Poor coordination \| 1 HP:0008368 \| Tarsal fusions \| 1 HP:0000968 \| Ectodermal dysplasia \| 1 HP:0002006 \| Tessier facial cleft \| 1 HP:0001763 \| Pes planus \| 1 HP:0009778 \| Small thumbs \| 1 HP:0000774 \| Low chest circumference \| 1

Disease ID	1251
Disease	syndactyly
Manually Symptom	(Waiting for update.)
Text Mined Symptom	(Waiting for update.)

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:11)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs121434419	16957682	658	BMPR1B	umls:C0039075	BeFree	A novel R486Q mutation in BMPR1B resulting in either a brachydactyly type C/symphalangism-like phenotype or brachydactyly type A2.	0.000542884	2006	BMPR1B	4	95154621	G	A
rs121918504	15282208	2263	FGFR2	umls:C0039075	BeFree	In addition, a recently identified ligand-dependent S252L/A315S double mutation in FGFR2 was shown to cause syndactyly in the absence of craniosynostosis.	0.005167327	2004	FGFR2	10	121517460	C	T,A
rs121918504	12357470	2263	FGFR2	umls:C0039075	BeFree	A further test of this hypothesis is provided by a unique family segregating two FGFR2 mutations in cis (S252L; A315S), in which severe syndactyly occurs in the absence of the craniosynostosis that typically accompanies FGFR2 mutations.	0.005167327	2002	FGFR2	10	121517460	C	T,A
rs140047318	16957682	658	BMPR1B	umls:C0039075	BeFree	A novel R486Q mutation in BMPR1B resulting in either a brachydactyly type C/symphalangism-like phenotype or brachydactyly type A2.	0.000542884	2006	BMPR1B	4	95152757	G	A,T
rs28936683	16127465	9241	NOG	umls:C0039075	BeFree	They cause brachydactyly type A2 (L441P) and symphalangism (R438L), conditions previously associated with mutations in the GDF5 receptor bone morphogenetic protein receptor type 1b (BMPR1B) and the BMP antagonist NOGGIN, respectively.	0.002714419	2005	GDF5	20	35434093	A	G
rs397509432	24084572	2192	FBLN1	umls:C0039075	BeFree	Using homozygosity mapping and exome sequencing, we discovered a missense mutation, p.(Cys397Phe), in fibulin-1 in three patients from a consanguineous family presented with a novel syndrome of syndactyly, undescended testes, delayed motor milestones, mental retardation and signs of brain atrophy.	0.000271442	2013	FBLN1	22	45542278	G	T
rs77543610	15310757	2263	FGFR2	umls:C0039075	BeFree	Apert syndrome is an autosomal dominant disease characterized by craniosynostosis and bony syndactyly associated with point mutations (S252W and P253R) in the fibroblast growth factor receptor (FGFR) 2 that cause FGFR2 activation.	0.005167327	2004	FGFR2	10	121520160	G	C
rs77543610	11277076	2263	FGFR2	umls:C0039075	BeFree	Apert syndrome is a severe craniosynostosis/syndactyly disorder usually caused by specific substitutions (Ser252Trp or Pro253Arg) in FGFR2.	0.005167327	2001	FGFR2	10	121520160	G	C
rs79184941	9719378	2263	FGFR2	umls:C0039075	BeFree	Presence of the Apert canonical S252W FGFR2 mutation in a patient without severe syndactyly.	0.005167327	1998	FGFR2	10	121520163	G	C,A
rs79184941	15310757	2263	FGFR2	umls:C0039075	BeFree	Apert syndrome is an autosomal dominant disease characterized by craniosynostosis and bony syndactyly associated with point mutations (S252W and P253R) in the fibroblast growth factor receptor (FGFR) 2 that cause FGFR2 activation.	0.005167327	2004	FGFR2	10	121520163	G	C,A
rs79184941	11277076	2263	FGFR2	umls:C0039075	BeFree	Apert syndrome is a severe craniosynostosis/syndactyly disorder usually caused by specific substitutions (Ser252Trp or Pro253Arg) in FGFR2.	0.005167327	2001	FGFR2	10	121520163	G	C,A

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Disease ID	1251
Disease	syndactyly
Case	(Waiting for update.)

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