MCID: SYN061
MIFTS: 38

Syndactyly, Type Iv

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

Aliases & Classifications for Syndactyly, Type Iv

MalaCards integrated aliases for Syndactyly, Type Iv:

Name: Syndactyly, Type Iv 54 24 29 13 69
Polysyndactyly, Haas Type 50 56
Syndactyly Type 4 50 56
Polysyndactyly, Hass Type 24
Polysyndactyly Type Haas 50
Polysyndactyly Haas Type 71
Hass Type Syndactyly 24
Haas Type Syndactyly 71
Syndactyly Type Iv 71
Syndactyly 4 71
Sdty4 71
Sd4 71

Characteristics:

Orphanet epidemiological data:

56
syndactyly type 4
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

54
Inheritance:
autosomal dominant


HPO:

32
syndactyly, type iv:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 186200
Orphanet 56 ORPHA93405
UMLS via Orphanet 70 C1861355
ICD10 via Orphanet 34 Q70.4
MedGen 40 C1861355
MeSH 42 D013576

Summaries for Syndactyly, Type Iv

UniProtKB/Swiss-Prot : 71 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 triphalangeal thumb and hiv-1, and has symptoms including toe syndactyly, 6 metacarpals and triphalangeal thumb. An important gene associated with Syndactyly, Type Iv is LMBR1 (Limb Development Membrane Protein 1), and among its related pathways/superpathways is Wnt / Hedgehog / Notch. The drugs Busulfan and Celecoxib have been mentioned in the context of this disorder. Affiliated tissues include bone, and related phenotype is limbs/digits/tail.

NIH Rare Diseases : 50 this condition doesn't have a summary yet. please see our page(s) on syndactyly.

Description from OMIM: 186200

Related Diseases for Syndactyly, Type Iv

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



Diseases related to Syndactyly, Type Iv

Symptoms & Phenotypes for Syndactyly, Type Iv

Symptoms via clinical synopsis from OMIM:

54

Skeletal- Hands:
6 metacarpals
hexadactyly
cup-shaped hand
1-5 finger complete cutaneous syndactyly
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

Human phenotypes related to Syndactyly, Type Iv:

56 32 (show all 13)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 toe syndactyly 56 32 frequent (33%) Frequent (79-30%) HP:0001770
2 6 metacarpals 56 32 frequent (33%) Frequent (79-30%) HP:0001501
3 triphalangeal thumb 56 32 occasional (7.5%) Occasional (29-5%) HP:0001199
4 short tibia 56 32 frequent (33%) Frequent (79-30%) HP:0005736
5 limitation of joint mobility 56 32 occasional (7.5%) Occasional (29-5%) HP:0001376
6 hand polydactyly 56 32 hallmark (90%) Very frequent (99-80%) HP:0001161
7 foot polydactyly 56 32 frequent (33%) Frequent (79-30%) HP:0001829
8 camptodactyly of finger 56 32 hallmark (90%) Very frequent (99-80%) HP:0100490
9 1-5 finger syndactyly 56 32 hallmark (90%) Very frequent (99-80%) HP:0010708
10 polydactyly 32 HP:0010442
11 2-3 toe syndactyly 32 HP:0004691
12 1-5 finger complete cutaneous syndactyly 32 HP:0006088
13 supernumerary metacarpal bones 32 HP:0005917

MGI Mouse Phenotypes related to Syndactyly, Type Iv:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 8.8 DLL3 LMBR1 SHH

Drugs & Therapeutics for Syndactyly, Type Iv

Drugs for Syndactyly, Type Iv (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 47)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Busulfan Approved, Investigational Phase 2 55-98-1 2478
2
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
3
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
4
Doxorubicin Approved, Investigational Phase 2 23214-92-8 31703
5
Etoposide Approved Phase 2 33419-42-0 36462
6
Ifosfamide Approved Phase 2 3778-73-2 3690
7
Irinotecan Approved, Investigational Phase 2 97682-44-5, 100286-90-6 60838
8
Mechlorethamine Approved Phase 2 51-75-2 4033
9
Melphalan Approved Phase 2 148-82-3 4053 460612
10
Temozolomide Approved, Investigational Phase 2 85622-93-1 5394
11
Vinblastine Approved Phase 2 865-21-4 13342 241903
12
Vincristine Approved, Investigational Phase 2 2068-78-2, 57-22-7 5978
13
Doxil Approved June 1999 Phase 2 31703
14 Adjuvants, Anesthesia Phase 1, Phase 2
15 Anesthetics Phase 1, Phase 2
16 Anti-Asthmatic Agents Phase 1, Phase 2
17 Autonomic Agents Phase 1, Phase 2
18 Bromides Phase 1, Phase 2
19 Bronchodilator Agents Phase 1, Phase 2
20 Cholinergic Agents Phase 1, Phase 2
21 Cholinergic Antagonists Phase 1, Phase 2
22
Glycopyrrolate Phase 1, Phase 2 596-51-0 3494
23 Muscarinic Antagonists Phase 1, Phase 2
24 Neurotransmitter Agents Phase 1, Phase 2
25 Parasympatholytics Phase 1, Phase 2
26 Peripheral Nervous System Agents Phase 1, Phase 2
27 Respiratory System Agents Phase 1, Phase 2
28 Tiotropium Bromide Phase 1, Phase 2 136310-93-5
29 Alkylating Agents Phase 2
30 Analgesics Phase 2
31 Analgesics, Non-Narcotic Phase 2
32 Anti-Bacterial Agents Phase 2
33 Antibiotics, Antitubercular Phase 2
34 Anti-Inflammatory Agents Phase 2
35 Anti-Inflammatory Agents, Non-Steroidal Phase 2
36 Antimitotic Agents Phase 2
37 Antineoplastic Agents, Phytogenic Phase 2
38 Antirheumatic Agents Phase 2
39 Cyclooxygenase 2 Inhibitors Phase 2
40 Cyclooxygenase Inhibitors Phase 2
41 Etoposide phosphate Phase 2
42 Immunosuppressive Agents Phase 2
43 Isophosphamide mustard Phase 2
44 topoisomerase I inhibitors Phase 2
45 Topoisomerase Inhibitors Phase 2
46
Teriparatide Approved, Investigational Phase 1 52232-67-4 16133850
47 Bone Density Conservation Agents Phase 1

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Safety and Efficacy Study of Glyco pMDI After Single and Repeated Administration Completed NCT01176903 Phase 1, Phase 2 Glycopyrrolate;Tiotropium;placebo
2 First-line Treatment of Ewing Tumours With Primary Extrapulmonary Dissemination in Patients From 2 to 50 Years Recruiting NCT03011528 Phase 2 VDC-IE x2;VDC-IE;TEMIRI;Consolidation BuMel;Maintenance
3 A Phase I Study of AK159 in Healthy Postmenopausal Women Completed NCT01935479 Phase 1 AK159;MN-10-T;Placebo
4 Clinical Study of AK159 in Healthy Postmenopausal Women Completed NCT01551602 Phase 1 AK159;MN-10-T;Placebo
5 A Study of Orally Administered JNJ-56136379 to Evaluate Safety, Tolerability and Pharmacokinetics After Single Ascending Doses and One Multiple Dose Regimen in Healthy Participants (Part I), and After Multiple Dose Regimens in Participants With Chronic He Recruiting NCT02662712 Phase 1 JNJ-56136379;Placebo

Search NIH Clinical Center for Syndactyly, Type Iv

Genetic Tests for Syndactyly, Type Iv

Genetic tests related to Syndactyly, Type Iv:

id Genetic test Affiliating Genes
1 Syndactyly, Type Iv 29 24 DLL3

Anatomical Context for Syndactyly, Type Iv

MalaCards organs/tissues related to Syndactyly, Type Iv:

39
Bone

Publications for Syndactyly, Type Iv

Articles related to Syndactyly, Type Iv:

id Title Authors Year
1
Confirmation of genetic homogeneity of syndactyly type IV and triphalangeal thumb-polysyndactyly syndrome in a Chinese family and review of the literature. ( 23793141 )
2013
2
A ZRS duplication causes syndactyly type IV with tibial hypoplasia. ( 19291772 )
2009
3
Triphalangeal thumb-polysyndactyly syndrome and syndactyly type IV are caused by genomic duplications involving the long range, limb- specific SHH enhancer. ( 18417549 )
2008
4
A syndactyly type IV locus maps to 7q36. ( 17476456 )
2007
5
Syndactyly type IV/hexadactyly of feet associated with unilateral absence of the tibia. ( 1654744 )
1991

Variations for Syndactyly, Type Iv

ClinVar genetic disease variations for Syndactyly, Type Iv:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 LMBR1 LMBR1, 235-KB DUP, IVS5 duplication Pathogenic
2 LMBR1 LMBR1, 73-KB DUP duplication Pathogenic

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:

id Super pathways Score Top Affiliating Genes
1 10.88 DLL3 SHH

GO Terms for Syndactyly, Type Iv

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

id Name GO ID Score Top Affiliating Genes
1 embryonic digit morphogenesis GO:0042733 8.62 LMBR1 SHH

Sources for Syndactyly, Type Iv

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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