Ectrodactyly-Cleft Palate Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Ectrodactyly-Cleft Palate Syndrome

MalaCards integrated aliases for Ectrodactyly-Cleft Palate Syndrome:

Name: Ectrodactyly-Cleft Palate Syndrome ⁵⁶ ⁷¹

Ecp Syndrome ⁵⁶

Characteristics:

OMIM:

⁵⁶

Inheritance:
autosomal dominant

HPO:

³¹

ectrodactyly-cleft palate syndrome:
Inheritance autosomal dominant inheritance

External Ids:

OMIM ⁵⁶ 129830

MedGen ⁴¹ C1851848

SNOMED-CT via HPO ⁶⁸ 199879009 263681008 299034005 more

UMLS ⁷¹ C1851848

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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

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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
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:

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Symptoms & Phenotypes for Ectrodactyly-Cleft Palate Syndrome

Human phenotypes related to Ectrodactyly-Cleft Palate Syndrome:

³¹

#	Description	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:

⁵⁶

Mouth:
cleft palate
no cleft lip

Skin:
no ectodermal dysplasia

Limbs:
ectrodactyly

Clinical features from OMIM:

129830

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Drugs & Therapeutics for Ectrodactyly-Cleft Palate Syndrome

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

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Genetic Tests for Ectrodactyly-Cleft Palate Syndrome

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Anatomical Context for Ectrodactyly-Cleft Palate Syndrome

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

⁴⁰

Skin

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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. ⁶¹ ⁵⁶	Opitz JM...Cohen MM	7389733	1980
2	Management of central diabetes insipidus with oral desmopressin in a patient with ectrodactyly and cleft lip/palate (ECP) syndrome. ⁶¹	Ozaydin E...Kose G	19378901	2009

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Genes for Ectrodactyly-Cleft Palate Syndrome

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Variations for Ectrodactyly-Cleft Palate Syndrome

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Expression for Ectrodactyly-Cleft Palate Syndrome

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

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Pathways for Ectrodactyly-Cleft Palate Syndrome

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GO Terms for Ectrodactyly-Cleft Palate Syndrome

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Sources for Ectrodactyly-Cleft Palate Syndrome

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