MCID: ECT023
MIFTS: 16

Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type

Categories: Fetal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type

MalaCards integrated aliases for Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type:

Name: Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type 56 52
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type 58
Christianson-Fourie Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
hidrotic ectodermal dysplasia, christianson-fourie type
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
ectodermal dysplasia, hidrotic, christianson-fourie type:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare skin diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 601375
MESH via Orphanet 44 C536180
ICD10 via Orphanet 33 Q82.8
UMLS via Orphanet 72 C1832411
Orphanet 58 ORPHA1808
MedGen 41 C1832411

Summaries for Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1808 Definition Hidrotic ectodermal dysplasia, Christianson-Fourie type is a rare ectodermal dysplasia syndrome characterized by tricho- and onychodysplasia in association with cardiac rhythm abnormalities. Patients present with sparse scalp hair and eyelashes, absent or sparse eyebrows, dystrophic thickened nails (on fingers distal end may be lifted from the nail bed) and supraventricular tachicardia or sinus bradicardia. Visit the Orphanet disease page for more resources.

MalaCards based summary : Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type, is also known as hidrotic ectodermal dysplasia, christianson-fourie type. Affiliated tissues include skin, and related phenotypes are absent eyebrow and nail dystrophy

More information from OMIM: 601375

Related Diseases for Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type

Symptoms & Phenotypes for Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type

Human phenotypes related to Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type:

58 31 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 absent eyebrow 58 31 hallmark (90%) Very frequent (99-80%) HP:0002223
2 nail dystrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0008404
3 sparse scalp hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0002209
4 sparse eyelashes 58 31 hallmark (90%) Very frequent (99-80%) HP:0000653
5 onychogryposis of toenails 58 31 hallmark (90%) Very frequent (99-80%) HP:0008401
6 sparse axillary hair 58 31 frequent (33%) Frequent (79-30%) HP:0002215
7 sparse pubic hair 58 31 frequent (33%) Frequent (79-30%) HP:0002225
8 arrhythmia 58 31 occasional (7.5%) Occasional (29-5%) HP:0011675
9 abnormality of the nail 58 Very frequent (99-80%)
10 abnormality of the hair 58 Very frequent (99-80%)
11 bradycardia 31 HP:0001662
12 hidrotic ectodermal dysplasia 31 HP:0007529
13 fair hair 31 HP:0002286
14 onychogryposis 31 HP:0001805
15 short eyelashes 31 HP:0010764
16 paroxysmal supraventricular tachycardia 31 HP:0004763

Symptoms via clinical synopsis from OMIM:

56
Cardiac:
bradycardia
episodic supraventricular tachycardia

Skin:
normal sweating
no skin defects

Nails:
dystrophic thickened nails
unattached distal half of nails

Teeth:
normal teeth

Hair:
absent eyebrows
short, thin, sparse, pale scalp hair
short, sparse eyelashes
sparse axillary and pubic hair

Clinical features from OMIM:

601375

Drugs & Therapeutics for Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type

Search Clinical Trials , NIH Clinical Center for Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type

Genetic Tests for Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type

Anatomical Context for Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type

MalaCards organs/tissues related to Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type:

40
Skin

Publications for Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type

Articles related to Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type:

# Title Authors PMID Year
1
Family with autosomal dominant hidrotic ectodermal dysplasia: a previously unrecognised syndrome? 56
8826433 1996

Variations for Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type

Expression for Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type

Search GEO for disease gene expression data for Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type.

Pathways for Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type

GO Terms for Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type

Sources for Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type

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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