SDTY5
MCID: SYN059
MIFTS: 39

Syndactyly, Type V (SDTY5)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Syndactyly, Type V

MalaCards integrated aliases for Syndactyly, Type V:

Name: Syndactyly, Type V 57 29 13 6 44 70
Syndactyly Type 5 12 73 20 58 15
Sdty5 57 12 72
Syndactyly with Associated Metacarpal and Metatarsal Fusion 12 20
Syndactyly with Metacarpal and Metatarsal Fusion 57 72
Postaxial Syndactyly with Metacarpal Synostosis 58
Syndactyly Type V 72
Syndactyly 5 72
Sd5 58

Characteristics:

Orphanet epidemiological data:

58
syndactyly type 5
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant


HPO:

31
syndactyly, type v:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0111819
OMIM® 57 186300
SNOMED-CT 67 719159004
MESH via Orphanet 45 C538155
ICD10 via Orphanet 33 Q70.0 Q70.2
UMLS via Orphanet 71 C1861348
Orphanet 58 ORPHA93406
MedGen 41 C1861348
UMLS 70 C1861348

Summaries for Syndactyly, Type V

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 93406 Definition Syndactyly type 5 (SD5) is a very rare congenital limb malformation characterized by postaxial syndactyly of hands and feet, associated with metacarpal and metatarsal fusion of fourth and fifth digits. Epidemiology So far, less than ten reports have been described in the literature. Clinical description Soft tissue syndactyly (involving the 3rd and 4th fingers and the 2nd and 3rd toes) may be present. Etiology The locus associated with SD5 maps to 2q31-q32. Mutations in the HOXD13 gene may be causative. Genetic counseling The condition is inherited as an autosomal dominant trait.

MalaCards based summary : Syndactyly, Type V, also known as syndactyly type 5, is related to brachydactyly, type d and brachydactyly, type a4. An important gene associated with Syndactyly, Type V is HOXD13 (Homeobox D13). Affiliated tissues include kidney, and related phenotypes are short distal phalanx of finger and ulnar deviation of finger

Disease Ontology : 12 A syndactyly characterized by postaxial syndactyly of the hands and feet associated with metacarpal and metatarsal fusion typically affecting the 4th and 5th or the 3rd and 4th digits that has material basis in heterozygous mutation in HOXD13 on chromosome 2q31.1.

UniProtKB/Swiss-Prot : 72 Syndactyly 5: A form of syndactyly, a congenital anomaly of the hand or foot marked by persistence of the webbing between adjacent digits that are more or less completely attached. The characteristic finding in SDTY5 is the presence of an associated metacarpal and metatarsal fusion. The metacarpals and metatarsals most commonly fused are the 4th and 5th or the 3rd and 4th. Soft tissue syndactyly usually affects the 3rd and 4th fingers and the 2nd and 3rd toes.

Wikipedia : 73 Syndactyly is a condition wherein two or more digits are fused together. It occurs normally in some... more...

More information from OMIM: 186300

Related Diseases for Syndactyly, Type V

Diseases in the Syndactyly, Type Iii family:

Syndactyly, Type Iv Syndactyly, Type V
Syndactyly Type 6

Diseases related to Syndactyly, Type V via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 28)
# Related Disease Score Top Affiliating Genes
1 brachydactyly, type d 30.1 HOXD13 HOXD12
2 brachydactyly, type a4 29.9 HOXD13 HOXD12 EPHA7
3 brachydactyly-syndactyly syndrome 29.4 HOXD13 HOXD12 HOXD11 HOXD10 EPHA7
4 synpolydactyly 28.9 HOXD9 HOXD13 HOXD12 HOXD11 HOXD10 HOXA13
5 brachydactyly 28.6 PTHLH HOXD9 HOXD13 HOXD12 HOXD11 HOXD10
6 chromosome 2q35 duplication syndrome 28.4 SOX9 HOXD9 HOXD13 HOXD12 HOXD11 HOXA13
7 metacarpal 4-5 fusion 11.1
8 isolated growth hormone deficiency type iii 10.1 HOXD13 HOXA13
9 laurin-sandrow syndrome 10.0 HOXD12 HOXD11
10 syndactyly, type iv 10.0 HOXD13 HOXD12 HOXD11
11 townes-brocks syndrome 10.0 HOXD13 HOXD11
12 dentinogenesis imperfecta type 2 10.0
13 synpolydactyly 1 10.0
14 vertical talus, congenital 9.9 HOXD12 HOXD11 HOXD10
15 preaxial deficiency, postaxial polydactyly, and hypospadias 9.9 HOXD13 HOXD10 HOXA13
16 brachydactyly, type e2 9.9 PTHLH HOXD13
17 hypertension and brachydactyly syndrome 9.9 PTHLH HOXD13
18 tibia, hypoplasia or aplasia of, with polydactyly 9.9 SOX9 HOXD13 HOXD12
19 hypospadias 9.8 SOX9 HOXD13 HOXA13
20 acrodysostosis 9.8 PTHLH HOXD13
21 clubfoot 9.8 HOXD13 HOXD12 HOXD11 HOXD10
22 chondromyxoid fibroma 9.8 SOX9 PTHLH
23 skeletal dysplasias 9.7 SOX9 PTHLH
24 brachydactyly, type e1 9.7 PTHLH HOXD13 HOXD12
25 chondroblastoma 9.6 SOX9 PTHLH
26 bone development disease 9.6 SOX9 PTHLH HOXD13
27 brachydactyly, type a1 9.6 PTHLH HOXD13
28 hand-foot-genital syndrome 9.4 HOXD9 HOXD13 HOXD12 HOXD10 HOXA13

Graphical network of the top 20 diseases related to Syndactyly, Type V:



Diseases related to Syndactyly, Type V

Symptoms & Phenotypes for Syndactyly, Type V

Human phenotypes related to Syndactyly, Type V:

58 31 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short distal phalanx of finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0009882
2 ulnar deviation of finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0009465
3 metacarpal synostosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0009701
4 metatarsal synostosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001440
5 camptodactyly of finger 58 31 frequent (33%) Frequent (79-30%) HP:0100490
6 2-3 toe syndactyly 58 31 frequent (33%) Frequent (79-30%) HP:0004691
7 3-4 finger syndactyly 58 31 frequent (33%) Frequent (79-30%) HP:0006097
8 clinodactyly of the 5th finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0004209
9 brachydactyly 31 HP:0001156
10 cutaneous finger syndactyly 31 HP:0010554
11 carpal synostosis 31 HP:0009702
12 joint contracture of the hand 31 HP:0009473
13 3-4 toe syndactyly 31 HP:0009779
14 absent distal interphalangeal creases 31 HP:0001032
15 4-5 toe syndactyly 31 HP:0004692
16 fused fourth and fifth metacarpals 31 HP:0005867
17 enlarged proximal interphalangeal joints 31 HP:0006185

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skeletal Hands:
brachydactyly
camptodactyly
absent distal interphalangeal creases
enlarged proximal interphalangeal joints
distal phalangeal hypoplasia
more
Skeletal Feet:
partial soft tissue syndactyly
2-3 or 4-5 toe syndactyly

Clinical features from OMIM®:

186300 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Syndactyly, Type V:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 10.1 ALDH1A2 GJA1 HOXA13 HOXD10 HOXD11 HOXD12
2 mortality/aging MP:0010768 10.02 ALDH1A2 GJA1 HOXA13 HOXD10 HOXD11 HOXD13
3 endocrine/exocrine gland MP:0005379 10 ALDH1A2 GJA1 HOXA13 HOXD13 HOXD9 PTHLH
4 integument MP:0010771 9.91 GJA1 HOXA13 HOXD13 HOXD9 PTHLH SOX9
5 digestive/alimentary MP:0005381 9.88 HOXA13 HOXD12 HOXD13 PTHLH SOX9
6 muscle MP:0005369 9.87 ALDH1A2 GJA1 HOXD10 HOXD12 HOXD13 HOXD9
7 renal/urinary system MP:0005367 9.86 ALDH1A2 HOXA13 HOXD10 HOXD11 HOXD13 HOXD9
8 reproductive system MP:0005389 9.81 GJA1 HOXA13 HOXD10 HOXD11 HOXD12 HOXD13
9 skeleton MP:0005390 9.65 ALDH1A2 GJA1 HOXA13 HOXD10 HOXD11 HOXD12
10 vision/eye MP:0005391 9.1 ALDH1A2 GJA1 HOXA13 HOXD13 PTHLH SOX9

Drugs & Therapeutics for Syndactyly, Type V

Search Clinical Trials , NIH Clinical Center for Syndactyly, Type V

Cochrane evidence based reviews: syndactyly, type v

Genetic Tests for Syndactyly, Type V

Genetic tests related to Syndactyly, Type V:

# Genetic test Affiliating Genes
1 Syndactyly, Type V 29 HOXD13

Anatomical Context for Syndactyly, Type V

MalaCards organs/tissues related to Syndactyly, Type V:

40
Kidney

Publications for Syndactyly, Type V

Articles related to Syndactyly, Type V:

# Title Authors PMID Year
1
Mutations in HOXD13 underlie syndactyly type V and a novel brachydactyly-syndactyly syndrome. 6 61 57
17236141 2007
2
A 72-year-old Danish puzzle resolved--comparative analysis of phenotypes in families with different-sized HOXD13 polyalanine expansions. 6 57
16222680 2005
3
Syndactyly type V. 57 61
6283889 1982
4
A simple method for characterising syndactyly in clinical practice. 57
16261692 2005
5
Dermatoglyphics in kidney diseases: a review. 61
27066327 2016

Variations for Syndactyly, Type V

ClinVar genetic disease variations for Syndactyly, Type V:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 HOXD13 NM_000523.4(HOXD13):c.974A>G (p.Gln325Arg) SNV Pathogenic 14874 rs104893635 GRCh37: 2:176959400-176959400
GRCh38: 2:176094672-176094672
2 HOXD13 NM_000523.4(HOXD13):c.744_747del (p.Gln248fs) Deletion Pathogenic 689765 rs1574943406 GRCh37: 2:176958359-176958362
GRCh38: 2:176093631-176093634
3 GJA1 NM_000165.5(GJA1):c.917G>A (p.Ser306Asn) SNV Pathogenic 829870 rs1582558792 GRCh37: 6:121768910-121768910
GRCh38: 6:121447764-121447764
4 HOXD13 NM_000523.4(HOXD13):c.209_210insGGCTGCGGCGGCGGCAGCGGC (p.Ala65_Ala71dup) Insertion Pathogenic 14873 rs878854345 GRCh37: 2:176957822-176957823
GRCh38: 2:176093094-176093095

UniProtKB/Swiss-Prot genetic disease variations for Syndactyly, Type V:

72
# Symbol AA change Variation ID SNP ID
1 HOXD13 p.Gln325Arg VAR_031652 rs104893635

Expression for Syndactyly, Type V

Search GEO for disease gene expression data for Syndactyly, Type V.

Pathways for Syndactyly, Type V

GO Terms for Syndactyly, Type V

Cellular components related to Syndactyly, Type V according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 9.56 SOX9 PTHLH HOXD9 HOXD13 HOXD11 HOXD10
2 chromatin GO:0000785 9.17 SOX9 HOXD9 HOXD13 HOXD12 HOXD11 HOXD10

Biological processes related to Syndactyly, Type V according to GeneCards Suite gene sharing:

(show all 26)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 9.98 SOX9 HOXD9 HOXD13 HOXD10 HOXA13
2 regulation of transcription by RNA polymerase II GO:0006357 9.95 SOX9 HOXD9 HOXD13 HOXD12 HOXD11 HOXD10
3 regulation of transcription, DNA-templated GO:0006355 9.91 SOX9 HOXD9 HOXD13 HOXD12 HOXD11 HOXD10
4 negative regulation of cell proliferation GO:0008285 9.85 SOX9 PTHLH GJA1 ALDH1A2
5 regulation of gene expression GO:0010468 9.81 SOX9 PTHLH HOXD9 HOXD10
6 pattern specification process GO:0007389 9.63 HOXD13 HOXD12
7 embryonic digit morphogenesis GO:0042733 9.62 HOXD13 HOXD12
8 embryonic skeletal system morphogenesis GO:0048704 9.62 HOXD9 HOXD10
9 skeletal muscle tissue development GO:0007519 9.61 HOXD9 HOXD10
10 adult locomotory behavior GO:0008344 9.61 HOXD9 HOXD10
11 embryonic limb morphogenesis GO:0030326 9.61 HOXD13 HOXD10 ALDH1A2
12 branching involved in ureteric bud morphogenesis GO:0001658 9.6 SOX9 HOXD11
13 mammary gland development GO:0030879 9.59 SOX9 HOXD9
14 neural crest cell development GO:0014032 9.58 SOX9 ALDH1A2
15 tissue homeostasis GO:0001894 9.57 SOX9 HOXA13
16 negative regulation of chondrocyte differentiation GO:0032331 9.56 SOX9 PTHLH
17 male genitalia development GO:0030539 9.54 HOXD13 HOXA13
18 prostate gland development GO:0030850 9.52 SOX9 HOXD13
19 embryonic forelimb morphogenesis GO:0035115 9.5 HOXD9 HOXA13 ALDH1A2
20 multicellular organism development GO:0007275 9.5 HOXD9 HOXD13 HOXD12 HOXD11 HOXD10 HOXA13
21 peripheral nervous system neuron development GO:0048935 9.49 HOXD9 HOXD10
22 hindlimb morphogenesis GO:0035137 9.48 HOXD9 HOXD10
23 forelimb morphogenesis GO:0035136 9.46 HOXD9 HOXD10
24 anterior/posterior pattern specification GO:0009952 9.46 HOXD9 HOXD13 HOXD10 ALDH1A2
25 proximal/distal pattern formation GO:0009954 9.43 HOXD9 HOXD10 ALDH1A2
26 skeletal system development GO:0001501 9.1 SOX9 PTHLH HOXD13 HOXD12 HOXD10 HOXA13

Molecular functions related to Syndactyly, Type V according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.91 SOX9 HOXD9 HOXD13 HOXD12 HOXD11 HOXD10
2 DNA-binding transcription factor activity GO:0003700 9.72 SOX9 HOXD9 HOXD13 HOXD10 HOXA13
3 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.71 SOX9 HOXD13 HOXD10 HOXA13
4 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.63 SOX9 HOXD9 HOXD13 HOXD11 HOXD10 HOXA13
5 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.5 SOX9 HOXD9 HOXD13 HOXD12 HOXD11 HOXD10
6 proximal promoter sequence-specific DNA binding GO:0000987 9.43 SOX9 HOXD13 HOXA13
7 sequence-specific double-stranded DNA binding GO:1990837 9.17 SOX9 HOXD9 HOXD13 HOXD12 HOXD11 HOXD10

Sources for Syndactyly, Type V

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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