MCID: ECT104
MIFTS: 14

Ectodermal Dysplasia with Mental Retardation and Syndactyly

Categories: Mental diseases, Neuronal diseases

Aliases & Classifications for Ectodermal Dysplasia with Mental Retardation and Syndactyly

MalaCards integrated aliases for Ectodermal Dysplasia with Mental Retardation and Syndactyly:

Name: Ectodermal Dysplasia with Mental Retardation and Syndactyly 56

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive.


HPO:

31
ectodermal dysplasia with mental retardation and syndactyly:
Inheritance autosomal recessive inheritance sporadic


Classifications:



Summaries for Ectodermal Dysplasia with Mental Retardation and Syndactyly

MalaCards based summary : Ectodermal Dysplasia with Mental Retardation and Syndactyly is related to chromosome 2q35 duplication syndrome and anhidrosis. Affiliated tissues include skin, and related phenotypes are intellectual disability and wide nasal bridge

More information from OMIM: 600906

Related Diseases for Ectodermal Dysplasia with Mental Retardation and Syndactyly

Diseases related to Ectodermal Dysplasia with Mental Retardation and Syndactyly via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 chromosome 2q35 duplication syndrome 10.2
2 anhidrosis 10.2
3 ectodermal dysplasia 10.2

Symptoms & Phenotypes for Ectodermal Dysplasia with Mental Retardation and Syndactyly

Human phenotypes related to Ectodermal Dysplasia with Mental Retardation and Syndactyly:

31 (show all 20)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 wide nasal bridge 31 HP:0000431
3 abnormal facial shape 31 HP:0001999
4 dry skin 31 HP:0000958
5 hypohidrosis 31 HP:0000966
6 dental crowding 31 HP:0000678
7 open mouth 31 HP:0000194
8 aqueductal stenosis 31 HP:0002410
9 ventriculomegaly 31 HP:0002119
10 aplasia cutis congenita of scalp 31 HP:0007385
11 headache 31 HP:0002315
12 long palpebral fissure 31 HP:0000637
13 2-3 toe syndactyly 31 HP:0004691
14 onychogryposis of toenails 31 HP:0008401
15 ectodermal dysplasia 31 HP:0000968
16 abnormality of the ear 31 HP:0000598
17 3-4 finger syndactyly 31 HP:0006097
18 subcapsular cataract 31 HP:0000523
19 shovel-shaped maxillary central incisors 31 HP:0006358
20 sparse and thin eyebrow 31 HP:0000535

Symptoms via clinical synopsis from OMIM:

56
Limbs:
third and fourth finger syndactyly. second and third toe syndactyly.

Hair:
short hair. abundant stiff hair. sparse eyebrows.

Growth:
normal height, weight, and head circumference.

Head:
scalp defect.

Eyes:
large palpebral fissures.

Mouth:
constantly open mouth.

Skin:
ectodermal dysplasia. mild hypohidrosis. dry skin.

Nails:
severe onychogryposis, esp. the great toes.

Neuro:
mental retardation.

Facies:
peculiar face.

Nose:
broad nasal bridge.

Ears:
abnormally modeled ears.

Clinical features from OMIM:

600906

Drugs & Therapeutics for Ectodermal Dysplasia with Mental Retardation and Syndactyly

Search Clinical Trials , NIH Clinical Center for Ectodermal Dysplasia with Mental Retardation and Syndactyly

Genetic Tests for Ectodermal Dysplasia with Mental Retardation and Syndactyly

Anatomical Context for Ectodermal Dysplasia with Mental Retardation and Syndactyly

MalaCards organs/tissues related to Ectodermal Dysplasia with Mental Retardation and Syndactyly:

40
Skin

Publications for Ectodermal Dysplasia with Mental Retardation and Syndactyly

Articles related to Ectodermal Dysplasia with Mental Retardation and Syndactyly:

# Title Authors PMID Year
1
"New" ectodermal dysplasia with mental retardation and syndactyly. 56 61
8533843 1995

Variations for Ectodermal Dysplasia with Mental Retardation and Syndactyly

Expression for Ectodermal Dysplasia with Mental Retardation and Syndactyly

Search GEO for disease gene expression data for Ectodermal Dysplasia with Mental Retardation and Syndactyly.

Pathways for Ectodermal Dysplasia with Mental Retardation and Syndactyly

GO Terms for Ectodermal Dysplasia with Mental Retardation and Syndactyly

Sources for Ectodermal Dysplasia with Mental Retardation and Syndactyly

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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