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 72
Ecp Syndrome 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
ectrodactyly-cleft palate syndrome:
Inheritance autosomal dominant inheritance


External Ids:

OMIM 57 129830
MedGen 42 C1851848
UMLS 72 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. Affiliated tissues include skin, and 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 9.9
4 diabetes insipidus 9.9
5 cleft lip/palate 9.9

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:

32
# Description HPO Frequency HPO Source Accession
1 cleft palate 32 HP:0000175
2 split hand 32 HP:0001171
3 abnormality of the skin 32 HP:0000951

Symptoms via clinical synopsis from OMIM:

57
Mouth:
cleft palate
no cleft lip

Skin:
no ectodermal dysplasia

Limbs:
ectrodactyly

Clinical features from OMIM:

129830

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

MalaCards organs/tissues related to Ectrodactyly-Cleft Palate Syndrome:

41
Skin

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. 38 8
7389733 1980
2
Management of central diabetes insipidus with oral desmopressin in a patient with ectrodactyly and cleft lip/palate (ECP) syndrome. 38
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
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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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