ECTDS
MCID: ECT073
MIFTS: 21

Ectodermal Dysplasia/short Stature Syndrome (ECTDS)

Categories: Fetal diseases, Genetic diseases, Oral diseases, Rare diseases, Skin diseases

Aliases & Classifications for Ectodermal Dysplasia/short Stature Syndrome

MalaCards integrated aliases for Ectodermal Dysplasia/short Stature Syndrome:

Name: Ectodermal Dysplasia/short Stature Syndrome 58 76 30 6 74
Ectds 58 76
Nail and Teeth Abnormalities-Marginal Palmoplantar Keratoderma-Oral Hyperpigmentation Syndrome 60
Short Stature-Nail Dysplasia-Marginal Palmoplantar Keratoderma-Oral Hyperpigmentation Syndrome 60
Dysplasia, Ectodermal/short Stature Syndrome 41
Ectodermal Dysplasia-Short Stature Syndrome 60

Characteristics:

Orphanet epidemiological data:

60
nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy; Age of death: normal life expectancy;

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
ectodermal dysplasia/short stature syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Ectodermal Dysplasia/short Stature Syndrome

UniProtKB/Swiss-Prot : 76 Ectodermal dysplasia/short stature syndrome: An autosomal recessive ectodermal dysplasia syndrome characterized by nail dystrophy and/or loss, oral mucosa and/or tongue pigmentation, abnormal dentition, keratoderma affecting the margins of the palms and soles, focal hyperkeratosis of the dorsal aspects of the hands and feet, and short stature.

MalaCards based summary : Ectodermal Dysplasia/short Stature Syndrome, is also known as ectds. An important gene associated with Ectodermal Dysplasia/short Stature Syndrome is GRHL2 (Grainyhead Like Transcription Factor 2). Affiliated tissues include tongue and skin, and related phenotypes are dysphagia and asthma

Description from OMIM: 616029

Related Diseases for Ectodermal Dysplasia/short Stature Syndrome

Symptoms & Phenotypes for Ectodermal Dysplasia/short Stature Syndrome

Human phenotypes related to Ectodermal Dysplasia/short Stature Syndrome:

33 (show all 9)
# Description HPO Frequency HPO Source Accession
1 dysphagia 33 occasional (7.5%) HP:0002015
2 asthma 33 occasional (7.5%) HP:0002099
3 short stature 33 HP:0004322
4 hyperkeratosis 33 HP:0000962
5 nail dystrophy 33 HP:0008404
6 anonychia 33 HP:0001798
7 hypodontia 33 HP:0000668
8 epidermal acanthosis 33 HP:0025092
9 hypoplasia of dental enamel 33 HP:0006297

Symptoms via clinical synopsis from OMIM:

58
Growth Height:
short stature

Skin Nails Hair Nails:
absent nails
dystrophic nails

Abdomen Gastrointestinal:
dysphagia (in some patients)
esophageal strictures (in some patients)

Head And Neck Mouth:
hyperpigmentation of the oral mucosa
hyperpigmentation of the tongue

Skin Nails Hair Skin:
keratoderma of margins of palms and soles
focal hyperkeratosis of dorsum of hands and feet

Head And Neck Teeth:
hypodontia
enamel hypoplasia
delayed dentition

Skin Nails Hair Skin Histology:
acanthosis, mild
hyperkeratosis, mild

Head And Neck Ears:
sensorineural deafness in early infancy (in some patients)

Respiratory Airways:
bronchial asthma (in some patients)

Clinical features from OMIM:

616029

Drugs & Therapeutics for Ectodermal Dysplasia/short Stature Syndrome

Search Clinical Trials , NIH Clinical Center for Ectodermal Dysplasia/short Stature Syndrome

Genetic Tests for Ectodermal Dysplasia/short Stature Syndrome

Genetic tests related to Ectodermal Dysplasia/short Stature Syndrome:

# Genetic test Affiliating Genes
1 Ectodermal Dysplasia/short Stature Syndrome 30 GRHL2

Anatomical Context for Ectodermal Dysplasia/short Stature Syndrome

MalaCards organs/tissues related to Ectodermal Dysplasia/short Stature Syndrome:

42
Tongue, Skin

Publications for Ectodermal Dysplasia/short Stature Syndrome

Articles related to Ectodermal Dysplasia/short Stature Syndrome:

# Title Authors Year
1
Mutations in GRHL2 result in an autosomal-recessive ectodermal Dysplasia syndrome. ( 25152456 )
2014

Variations for Ectodermal Dysplasia/short Stature Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Ectodermal Dysplasia/short Stature Syndrome:

76
# Symbol AA change Variation ID SNP ID
1 GRHL2 p.Tyr398His VAR_071989 rs587777737
2 GRHL2 p.Ile482Lys VAR_071990 rs587777738

ClinVar genetic disease variations for Ectodermal Dysplasia/short Stature Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GRHL2 NM_024915.3(GRHL2): c.1192T> C (p.Tyr398His) single nucleotide variant Pathogenic rs587777737 GRCh38 Chromosome 8, 101619632: 101619632
2 GRHL2 NM_024915.3(GRHL2): c.1192T> C (p.Tyr398His) single nucleotide variant Pathogenic rs587777737 GRCh37 Chromosome 8, 102631860: 102631860
3 GRHL2 NM_024915.3(GRHL2): c.1445T> A (p.Ile482Lys) single nucleotide variant Pathogenic rs587777738 GRCh38 Chromosome 8, 101632325: 101632325
4 GRHL2 NM_024915.3(GRHL2): c.1445T> A (p.Ile482Lys) single nucleotide variant Pathogenic rs587777738 GRCh37 Chromosome 8, 102644553: 102644553

Expression for Ectodermal Dysplasia/short Stature Syndrome

Search GEO for disease gene expression data for Ectodermal Dysplasia/short Stature Syndrome.

Pathways for Ectodermal Dysplasia/short Stature Syndrome

GO Terms for Ectodermal Dysplasia/short Stature Syndrome

Sources for Ectodermal Dysplasia/short Stature Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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