SDTY4
MCID: SYN061
MIFTS: 40

Syndactyly, Type Iv (SDTY4)

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

Aliases & Classifications for Syndactyly, Type Iv

MalaCards integrated aliases for Syndactyly, Type Iv:

Name: Syndactyly, Type Iv 57 29 13 6 44 39 70
Polysyndactyly, Haas Type 57 12 20 58
Syndactyly Type 4 12 20 58 15
Haas Type Syndactyly 57 12 72
Sdty4 57 12 72
Sd4 57 72
Polysyndactyly Type Haas 20
Polysyndactyly Haas Type 72
Syndactyly Type Iv 72
Syndactyly 4 72

Characteristics:

Orphanet epidemiological data:

58
syndactyly type 4
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 iv:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0111818
OMIM® 57 186200
SNOMED-CT 67 719158007
ICD10 via Orphanet 33 Q70.4
UMLS via Orphanet 71 C1861355
Orphanet 58 ORPHA93405
MedGen 41 C1861355
UMLS 70 C1861355

Summaries for Syndactyly, Type Iv

UniProtKB/Swiss-Prot : 72 Syndactyly 4: 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. SDTY4 is characterized by complete bilateral syndactyly (involving all digits 1 to 5). A frequent association with polydactyly (with six metacarpals and six digits) has been reported. Feet are affected occasionally.

MalaCards based summary : Syndactyly, Type Iv, also known as polysyndactyly, haas type, is related to polydactyly, preaxial ii and hemimelia. An important gene associated with Syndactyly, Type Iv is LMBR1 (Limb Development Membrane Protein 1), and among its related pathways/superpathways are Signaling by Hedgehog and Hedgehog signaling pathway (KEGG). Related phenotypes are hand polydactyly and camptodactyly of finger

Disease Ontology : 12 A syndactyly characterized by complete bilateral syndactyly involving all digits 1 to 5 that has material basis in heterozygous mutation of a SHH regulatory element in intron 5 of LMBR1 on chromosome 7q36.3.

More information from OMIM: 186200

Related Diseases for Syndactyly, Type Iv

Diseases in the Syndactyly, Type Iii family:

Syndactyly, Type Iv Syndactyly, Type V
Syndactyly Type 6

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

(show all 47)
# Related Disease Score Top Affiliating Genes
1 polydactyly, preaxial ii 30.6 ZRS SHH LMBR1
2 hemimelia 30.3 ZRS GLI3
3 tibial hemimelia 30.2 ZRS GLI3
4 polydactyly 29.0 ZRS ZNF141 SHH LMBR1 IQCE HOXD13
5 chromosome 2q35 duplication syndrome 28.2 ZP2 SHH LMBR1 IQCE HOXD13 HOXD12
6 radial hemimelia 10.3 SHH LMBR1
7 mesomelia 10.2 ZRS LMBR1
8 metacarpal 4-5 fusion 10.2 LMBR1 HOXD12
9 culler-jones syndrome 10.2 SHH GLI3
10 holoprosencephaly 3 10.1 ZRS SHH LMBR1
11 syndactyly, type iii 10.1 ZP2 LMBR1
12 brachydactyly, type a4 10.1 HOXD13 HOXD12
13 acrorenal syndrome 10.1 HOXD13 GLI3
14 split-foot deformity with mandibulofacial dysostosis 10.1 ZRS LMBR1
15 apert syndrome 10.0 SHH HAND2 GLI3
16 brachydactyly, type d 10.0 HOXD13 HOXD12
17 anus, imperforate 10.0 SHH HOXD13 GLI3
18 brachydactyly, type e1 10.0 HOXD13 HOXD12
19 currarino syndrome 10.0 SHH HOXD13
20 sexual sadism 10.0
21 polydactyly, preaxial iii 10.0
22 holoprosencephaly 10.0 ZRS SHH LMBR1 GLI3
23 physical disorder 10.0 ZP2 SHH LMBR1 GLI3
24 acheiropody 9.9 ZP2 SHH RNF32 LMBR1
25 brachydactyly-syndactyly syndrome 9.9 HOXD13 HOXD12 HOXD11
26 syndactyly, type v 9.9 HOXD13 HOXD12 HOXD11
27 bone development disease 9.9 SHH LMBR1 HOXD13 GLI3
28 sacral defect with anterior meningocele 9.9 SHH HOXD13
29 clubfoot 9.8 HOXD13 HOXD12 HOXD11
30 pallister-hall syndrome 9.8 ZNF141 SHH HOXD13 GLI3
31 skin tag 9.8 LMBR1 IQCE GLI3
32 townes-brocks syndrome 9.8 SHH HOXD13 HOXD11 GLI3
33 chromosomal duplication syndrome 9.8 ZP2 SHH LMBR1 HOXD13 GLI3
34 joubert syndrome 23 9.8 ZNF141 IQCE
35 orofacial cleft 9.8 SHH HAND2 GREM1 GLI3
36 basal cell carcinoma, infundibulocystic 9.7 IQCE EFCAB7
37 short-rib thoracic dysplasia 14 with polydactyly 9.7 ZNF141 IQCE GLI3
38 polydactyly, postaxial, type a1 9.7 ZNF141 IQCE GLI3
39 renal hypodysplasia/aplasia 1 9.7 SHH HOXD13 HOXD11 GREM1
40 synostosis 9.6 SHH LMBR1 HOXD13 GREM1 GLI3
41 synpolydactyly 9.6 LMBR1 HOXD13 HOXD12 HOXD11 GLI3
42 acrocallosal syndrome 9.6 ZNF141 SHH IQCE GLI3
43 ellis-van creveld syndrome 9.5 SHH IQCE GLI3 EFCAB7
44 brachydactyly 9.3 SHH IQCE HOXD13 HOXD12 HOXD11
45 greig cephalopolysyndactyly syndrome 9.3 ZP2 ZNF141 SHH LMBR1 IQCE GLI3
46 tibia, hypoplasia or aplasia of, with polydactyly 8.8 ZRS ZP2 SHH RNF32 LMBR1 HOXD13
47 laurin-sandrow syndrome 8.5 ZRS ZP2 ZNF141 SHH LMBR1 IQCE

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



Diseases related to Syndactyly, Type Iv

Symptoms & Phenotypes for Syndactyly, Type Iv

Human phenotypes related to Syndactyly, Type Iv:

58 31 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hand polydactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001161
2 camptodactyly of finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0100490
3 1-5 finger syndactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0010708
4 foot polydactyly 58 31 frequent (33%) Frequent (79-30%) HP:0001829
5 toe syndactyly 58 31 frequent (33%) Frequent (79-30%) HP:0001770
6 short tibia 58 31 frequent (33%) Frequent (79-30%) HP:0005736
7 6 metacarpals 58 31 frequent (33%) Frequent (79-30%) HP:0001501
8 limitation of joint mobility 58 31 occasional (7.5%) Occasional (29-5%) HP:0001376
9 triphalangeal thumb 58 31 occasional (7.5%) Occasional (29-5%) HP:0001199
10 2-3 toe syndactyly 31 HP:0004691
11 polydactyly 31 HP:0010442
12 postaxial polydactyly 31 HP:0100259
13 supernumerary metacarpal bones 31 HP:0005917
14 1-5 finger complete cutaneous syndactyly 31 HP:0006088

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skeletal Hands:
6 metacarpals
1-5 finger complete cutaneous syndactyly
hexadactyly
cup-shaped hand
separate triphalangeal thumb (in some patients)
more
Skin Nails Hair Nails:
fused fingernails

Skeletal Feet:
normal feet (majority of cases)
pre- or postaxial polydactyly (in some patients)
partial cutaneous 2-3 toe syndactyly

Clinical features from OMIM®:

186200 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Syndactyly, Type Iv:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 9.61 GLI3 GREM1 HAND2 HOXD11 HOXD12 HOXD13
2 skeleton MP:0005390 9.28 GLI3 GREM1 HAND2 HOXD11 HOXD12 HOXD13

Drugs & Therapeutics for Syndactyly, Type Iv

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

Cochrane evidence based reviews: syndactyly, type iv

Genetic Tests for Syndactyly, Type Iv

Genetic tests related to Syndactyly, Type Iv:

# Genetic test Affiliating Genes
1 Syndactyly, Type Iv 29 LMBR1

Anatomical Context for Syndactyly, Type Iv

Publications for Syndactyly, Type Iv

Articles related to Syndactyly, Type Iv:

(show all 11)
# Title Authors PMID Year
1
Triphalangeal thumb-polysyndactyly syndrome and syndactyly type IV are caused by genomic duplications involving the long range, limb-specific SHH enhancer. 57 61 6
18417549 2008
2
A specific mutation in the distant sonic hedgehog (SHH) cis-regulator (ZRS) causes Werner mesomelic syndrome (WMS) while complete ZRS duplications underlie Haas type polysyndactyly and preaxial polydactyly (PPD) with or without triphalangeal thumb. 6 57
19847792 2010
3
Bilateral complete polysyndactyly (type IV Haas). 6 57
1849351 1991
4
A ZRS duplication causes syndactyly type IV with tibial hypoplasia. 57 61
19291772 2009
5
A syndactyly type IV locus maps to 7q36. 57 61
17476456 2007
6
Syndactyly type IV/hexadactyly of feet associated with unilateral absence of the tibia. 61 57
1654744 1991
7
Microduplications encompassing the Sonic hedgehog limb enhancer ZRS are associated with Haas-type polysyndactyly and Laurin-Sandrow syndrome. 57
24456159 2014
8
Sub-Exome Target Sequencing in a Family With Syndactyly Type IV Due to a Novel Partial Duplication of the LMBR1 Gene: First Case Report in Fujian Province of China. 61
32184803 2020
9
An increased duplication of ZRS region that caused more than one supernumerary digits preaxial polydactyly in a large Chinese family. 61
27922091 2016
10
Confirmation of genetic homogeneity of syndactyly type IV and triphalangeal thumb-polysyndactyly syndrome in a Chinese family and review of the literature. 61
23793141 2013
11
[Detection of a copy number mutation on chromosome 7q36 using the Affymetrix SNP Array 6.0]. 61
19504452 2009

Variations for Syndactyly, Type Iv

ClinVar genetic disease variations for Syndactyly, Type Iv:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LMBR1 LMBR1, 235-KB DUP, IVS5 Duplication Pathogenic 4905 GRCh37:
GRCh38:
2 LMBR1 LMBR1, 73-KB DUP Duplication Pathogenic 155922 GRCh37:
GRCh38:
3 overlap with 2 genes GRCh37/hg19 7q36.3(chr7:156460343-156682575)x3 copy number gain Pathogenic 585197 GRCh37: 7:156460343-156682575
GRCh38:

Expression for Syndactyly, Type Iv

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

Pathways for Syndactyly, Type Iv

Pathways related to Syndactyly, Type Iv according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12 SHH IQCE GLI3 EFCAB7
2 10.67 SHH IQCE GLI3 EFCAB7
3
Show member pathways
10.54 SHH GLI3
4 9.91 SHH GLI3

GO Terms for Syndactyly, Type Iv

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

(show all 40)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 10.1 ZNF141 SHH HOXD13 HOXD12 HOXD11 HAND2
2 multicellular organism development GO:0007275 10.09 ZNF141 SHH HOXD13 HOXD12 HOXD11 HAND2
3 positive regulation of transcription by RNA polymerase II GO:0045944 10.07 SHH HOXD13 HAND2 GREM1 GLI3 EFCAB7
4 negative regulation of apoptotic process GO:0043066 9.98 SHH HAND2 GREM1 GLI3
5 regulation of cell proliferation GO:0042127 9.86 SHH HOXD13 GLI3
6 negative regulation of canonical Wnt signaling pathway GO:0090090 9.84 SHH GREM1 GLI3
7 anterior/posterior pattern specification GO:0009952 9.79 SHH HOXD13 GLI3
8 roof of mouth development GO:0060021 9.74 SHH HAND2 GLI3
9 anatomical structure development GO:0048856 9.72 SHH HOXD11 GLI3
10 odontogenesis of dentin-containing tooth GO:0042475 9.71 SHH HAND2 GLI3
11 T cell differentiation in thymus GO:0033077 9.68 SHH GLI3
12 metanephros development GO:0001656 9.67 SHH GLI3
13 oligodendrocyte differentiation GO:0048709 9.67 SHH GLI3
14 neuron fate commitment GO:0048663 9.66 SHH GLI3
15 branching morphogenesis of an epithelial tube GO:0048754 9.66 SHH GLI3
16 developmental growth GO:0048589 9.65 SHH GLI3
17 proximal/distal pattern formation GO:0009954 9.65 GREM1 GLI3
18 positive regulation of neuroblast proliferation GO:0002052 9.65 SHH GLI3
19 limb development GO:0060173 9.65 SHH GREM1 GLI3
20 embryonic morphogenesis GO:0048598 9.64 SHH GLI3
21 spinal cord motor neuron differentiation GO:0021522 9.64 SHH GLI3
22 anatomical structure formation involved in morphogenesis GO:0048646 9.63 SHH GLI3
23 male genitalia development GO:0030539 9.63 SHH HOXD13
24 positive regulation of protein import into nucleus GO:0042307 9.63 SHH GLI3 EFCAB7
25 embryonic digestive tract morphogenesis GO:0048557 9.62 SHH GLI3
26 negative thymic T cell selection GO:0045060 9.61 SHH GLI3
27 dorsal/ventral pattern formation GO:0009953 9.61 SHH HOXD11 GLI3
28 tongue development GO:0043586 9.6 HAND2 GLI3
29 positive regulation of alpha-beta T cell differentiation GO:0046638 9.58 SHH GLI3
30 artery development GO:0060840 9.58 SHH GLI3
31 branching involved in ureteric bud morphogenesis GO:0001658 9.58 SHH HOXD11 GLI3
32 pattern specification process GO:0007389 9.56 SHH HOXD13 HOXD12 GLI3
33 spinal cord dorsal/ventral patterning GO:0021513 9.52 SHH GLI3
34 mesenchymal cell proliferation GO:0010463 9.51 SHH HAND2
35 prostate gland development GO:0030850 9.5 SHH HOXD13 GLI3
36 hindgut morphogenesis GO:0007442 9.49 SHH GLI3
37 embryonic limb morphogenesis GO:0030326 9.46 SHH HOXD13 GREM1 GLI3
38 negative regulation of alpha-beta T cell differentiation GO:0046639 9.37 SHH GLI3
39 limb morphogenesis GO:0035108 9.26 ZNF141 IQCE HOXD13 GLI3
40 embryonic digit morphogenesis GO:0042733 9.1 SHH LMBR1 HOXD13 HOXD12 HAND2 GLI3

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

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.63 ZNF141 HOXD13 HOXD12 HOXD11 HAND2 GLI3
2 sequence-specific double-stranded DNA binding GO:1990837 9.35 HOXD13 HOXD12 HOXD11 HAND2 GLI3
3 morphogen activity GO:0016015 8.62 SHH GREM1

Sources for Syndactyly, Type Iv

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
Content
Loading form....