MCID: ECT027
MIFTS: 11

Ectrodactyly and Ectodermal Dysplasia Without Cleft Lip/palate

Categories: Nephrological diseases

Aliases & Classifications for Ectrodactyly and Ectodermal Dysplasia Without Cleft Lip/palate

MalaCards integrated aliases for Ectrodactyly and Ectodermal Dysplasia Without Cleft Lip/palate:

Name: Ectrodactyly and Ectodermal Dysplasia Without Cleft Lip/palate 57
Eec Syndrome Without Cleft Lip/palate 57
Eec Syndrome Without Cleft Lip Palate 73

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant
? same as eec syndrome


HPO:

31
ectrodactyly and ectodermal dysplasia without cleft lip/palate:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Ectrodactyly and Ectodermal Dysplasia Without Cleft Lip/palate

MalaCards based summary : Ectrodactyly and Ectodermal Dysplasia Without Cleft Lip/palate, is also known as eec syndrome without cleft lip/palate. Related phenotypes are abnormality of the dentition and split hand

Wikipedia : 73 Ectrodactyly-ectodermal dysplasia-cleft syndrome, or EEC, and also referred to as EEC syndrome and split... more...

More information from OMIM: 129810

Related Diseases for Ectrodactyly and Ectodermal Dysplasia Without Cleft Lip/palate

Symptoms & Phenotypes for Ectrodactyly and Ectodermal Dysplasia Without Cleft Lip/palate

Human phenotypes related to Ectrodactyly and Ectodermal Dysplasia Without Cleft Lip/palate:

31
# Description HPO Frequency HPO Source Accession
1 abnormality of the dentition 31 HP:0000164
2 split hand 31 HP:0001171
3 sparse hair 31 HP:0008070
4 split foot 31 HP:0001839
5 ectodermal dysplasia 31 HP:0000968

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Hair:
hypotrichosis

Limbs:
variably mild split-hand/split-foot to severe tetramelia

Mouth:
no cleft lip/palate

Skin:
ectodermal dysplasia

Teeth:
abnormal dentition

Clinical features from OMIM®:

129810 (Updated 20-May-2021)

Drugs & Therapeutics for Ectrodactyly and Ectodermal Dysplasia Without Cleft Lip/palate

Search Clinical Trials , NIH Clinical Center for Ectrodactyly and Ectodermal Dysplasia Without Cleft Lip/palate

Genetic Tests for Ectrodactyly and Ectodermal Dysplasia Without Cleft Lip/palate

Anatomical Context for Ectrodactyly and Ectodermal Dysplasia Without Cleft Lip/palate

Publications for Ectrodactyly and Ectodermal Dysplasia Without Cleft Lip/palate

Articles related to Ectrodactyly and Ectodermal Dysplasia Without Cleft Lip/palate:

# Title Authors PMID Year
1
Ectrodactyly (split-hand/split-foot) and ectodermal dysplasia with normal lip and palate in a four-generation kindred. 57
3233778 1988

Variations for Ectrodactyly and Ectodermal Dysplasia Without Cleft Lip/palate

Expression for Ectrodactyly and Ectodermal Dysplasia Without Cleft Lip/palate

Search GEO for disease gene expression data for Ectrodactyly and Ectodermal Dysplasia Without Cleft Lip/palate.

Pathways for Ectrodactyly and Ectodermal Dysplasia Without Cleft Lip/palate

GO Terms for Ectrodactyly and Ectodermal Dysplasia Without Cleft Lip/palate

Sources for Ectrodactyly and Ectodermal Dysplasia Without Cleft Lip/palate

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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