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 57 72 29 6 70
Ectds 57 72
Nail and Teeth Abnormalities-Marginal Palmoplantar Keratoderma-Oral Hyperpigmentation Syndrome 58
Short Stature-Nail Dysplasia-Marginal Palmoplantar Keratoderma-Oral Hyperpigmentation Syndrome 58
Dysplasia, Ectodermal/short Stature Syndrome 39
Ectodermal Dysplasia-Short Stature Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
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®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive


HPO:

31
ectodermal dysplasia/short stature syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare skin diseases
Developmental anomalies during embryogenesis


Summaries for Ectodermal Dysplasia/short Stature Syndrome

UniProtKB/Swiss-Prot : 72 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 related phenotypes are dysphagia and asthma

More information 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:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 dysphagia 31 occasional (7.5%) HP:0002015
2 asthma 31 occasional (7.5%) HP:0002099
3 short stature 31 HP:0004322
4 hyperkeratosis 31 HP:0000962
5 hypodontia 31 HP:0000668
6 nail dystrophy 31 HP:0008404
7 anonychia 31 HP:0001798
8 hypoplasia of dental enamel 31 HP:0006297
9 epidermal acanthosis 31 HP:0025092

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

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 29 GRHL2

Anatomical Context for Ectodermal Dysplasia/short Stature Syndrome

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

40
Tongue

Publications for Ectodermal Dysplasia/short Stature Syndrome

Articles related to Ectodermal Dysplasia/short Stature Syndrome:

# Title Authors PMID Year
1
Mutations in GRHL2 result in an autosomal-recessive ectodermal Dysplasia syndrome. 6 57
25152456 2014
2
Marked overlap of four genetic syndromes with dyskeratosis congenita confounds clinical diagnosis. 61
27612988 2016
3
[Scale of conflict in health care decision-making: an instrument adapted and validated for the Portuguese language]. 61
24601132 2013

Variations for Ectodermal Dysplasia/short Stature Syndrome

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GRHL2 NM_024915.4(GRHL2):c.1445T>A (p.Ile482Lys) SNV Pathogenic 156217 rs587777738 GRCh37: 8:102644553-102644553
GRCh38: 8:101632325-101632325
2 GRHL2 NM_024915.4(GRHL2):c.1192T>C (p.Tyr398His) SNV Pathogenic 156216 rs587777737 GRCh37: 8:102631860-102631860
GRCh38: 8:101619632-101619632

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

72
# Symbol AA change Variation ID SNP ID
1 GRHL2 p.Tyr398His VAR_071989 rs587777737
2 GRHL2 p.Ile482Lys VAR_071990 rs587777738

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
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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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