MCID: ECT073
MIFTS: 21

Ectodermal Dysplasia/short Stature Syndrome

Categories: Genetic diseases, Skin diseases, Fetal diseases, Rare diseases, Oral 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 75 29 6 73
Ectds 57 75
Nail and Teeth Abnormalities-Marginal Palmoplantar Keratoderma-Oral Hyperpigmentation Syndrome 59
Short Stature-Nail Dysplasia-Marginal Palmoplantar Keratoderma-Oral Hyperpigmentation Syndrome 59
Dysplasia, Ectodermal/short Stature Syndrome 40
Ectodermal Dysplasia-Short Stature Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
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
Inheritance:
autosomal recessive


HPO:

32
ectodermal dysplasia/short stature syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Ectodermal Dysplasia/short Stature Syndrome

UniProtKB/Swiss-Prot : 75 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 hypodontia and hyperkeratosis

Description from OMIM: 616029

Related Diseases for Ectodermal Dysplasia/short Stature Syndrome

Symptoms & Phenotypes for Ectodermal Dysplasia/short Stature Syndrome

Symptoms via clinical synopsis from OMIM:

57
Growth Height:
short stature

Skin Nails Hair Nails:
absent nails
dystrophic nails

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

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

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

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

Respiratory Airways:
bronchial asthma (in some patients)


Clinical features from OMIM:

616029

Human phenotypes related to Ectodermal Dysplasia/short Stature Syndrome:

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 hypodontia 32 HP:0000668
2 hyperkeratosis 32 HP:0000962
3 anonychia 32 HP:0001798
4 dysphagia 32 occasional (7.5%) HP:0002015
5 asthma 32 occasional (7.5%) HP:0002099
6 short stature 32 HP:0004322
7 hypoplasia of dental enamel 32 HP:0006297
8 nail dystrophy 32 HP:0008404
9 epidermal acanthosis 32 HP:0025092

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:

41
Tongue, Skin

Publications for Ectodermal Dysplasia/short Stature Syndrome

Variations for Ectodermal Dysplasia/short Stature Syndrome

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

75
# 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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