MCID: ECT099
MIFTS: 12

Ectrodactyly-Cleft Palate Syndrome

Aliases & Classifications for Ectrodactyly-Cleft Palate Syndrome

MalaCards integrated aliases for Ectrodactyly-Cleft Palate Syndrome:

Name: Ectrodactyly-Cleft Palate Syndrome 57 70
Ecp Syndrome 57

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant


HPO:

31
ectrodactyly-cleft palate syndrome:
Inheritance autosomal dominant inheritance


External Ids:

OMIM® 57 129830
MedGen 41 C1851848
UMLS 70 C1851848

Summaries for Ectrodactyly-Cleft Palate Syndrome

MalaCards based summary : Ectrodactyly-Cleft Palate Syndrome, also known as ecp syndrome, is related to split-hand/foot malformation 1 and isolated split hand-split foot malformation. Related phenotypes are cleft palate and split hand

More information from OMIM: 129830

Related Diseases for Ectrodactyly-Cleft Palate Syndrome

Diseases related to Ectrodactyly-Cleft Palate Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 split-hand/foot malformation 1 10.0
2 isolated split hand-split foot malformation 10.0
3 cleft lip 9.8
4 diabetes insipidus 9.8
5 cleft lip/palate 9.8

Graphical network of the top 20 diseases related to Ectrodactyly-Cleft Palate Syndrome:



Diseases related to Ectrodactyly-Cleft Palate Syndrome

Symptoms & Phenotypes for Ectrodactyly-Cleft Palate Syndrome

Human phenotypes related to Ectrodactyly-Cleft Palate Syndrome:

31
# Description HPO Frequency HPO Source Accession
1 cleft palate 31 HP:0000175
2 split hand 31 HP:0001171
3 abnormality of the skin 31 HP:0000951

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Mouth:
cleft palate
no cleft lip

Skin:
no ectodermal dysplasia

Limbs:
ectrodactyly

Clinical features from OMIM®:

129830 (Updated 20-May-2021)

Drugs & Therapeutics for Ectrodactyly-Cleft Palate Syndrome

Search Clinical Trials , NIH Clinical Center for Ectrodactyly-Cleft Palate Syndrome

Genetic Tests for Ectrodactyly-Cleft Palate Syndrome

Anatomical Context for Ectrodactyly-Cleft Palate Syndrome

Publications for Ectrodactyly-Cleft Palate Syndrome

Articles related to Ectrodactyly-Cleft Palate Syndrome:

# Title Authors PMID Year
1
The ECP syndrome, another autosomal dominant cause of monodactylous ectrodactyly. 57 61
7389733 1980
2
Management of central diabetes insipidus with oral desmopressin in a patient with ectrodactyly and cleft lip/palate (ECP) syndrome. 61
19378901 2009

Variations for Ectrodactyly-Cleft Palate Syndrome

Expression for Ectrodactyly-Cleft Palate Syndrome

Search GEO for disease gene expression data for Ectrodactyly-Cleft Palate Syndrome.

Pathways for Ectrodactyly-Cleft Palate Syndrome

GO Terms for Ectrodactyly-Cleft Palate Syndrome

Sources for Ectrodactyly-Cleft Palate Syndrome

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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