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 58 54
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type 60
Christianson-Fourie Syndrome 60

Characteristics:

Orphanet epidemiological data:

60
hidrotic ectodermal dysplasia, christianson-fourie type
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
ectodermal dysplasia, hidrotic, christianson-fourie type:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 601375
MESH via Orphanet 46 C536180
ICD10 via Orphanet 35 Q82.8
UMLS via Orphanet 75 C1832411
Orphanet 60 ORPHA1808
MedGen 43 C1832411

Summaries for Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1808Disease definitionHidrotic 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 nail dystrophy and sparse scalp hair

Description 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:

60 33 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nail dystrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0008404
2 sparse scalp hair 60 33 hallmark (90%) Very frequent (99-80%) HP:0002209
3 sparse eyelashes 60 33 hallmark (90%) Very frequent (99-80%) HP:0000653
4 absent eyebrow 60 33 hallmark (90%) Very frequent (99-80%) HP:0002223
5 onychogryposis of toenails 60 33 hallmark (90%) Very frequent (99-80%) HP:0008401
6 sparse pubic hair 60 33 frequent (33%) Frequent (79-30%) HP:0002225
7 sparse axillary hair 60 33 frequent (33%) Frequent (79-30%) HP:0002215
8 arrhythmia 60 33 occasional (7.5%) Occasional (29-5%) HP:0011675
9 abnormality of the nail 60 Very frequent (99-80%)
10 abnormality of the hair 60 Very frequent (99-80%)
11 hidrotic ectodermal dysplasia 33 HP:0007529
12 bradycardia 33 HP:0001662
13 fair hair 33 HP:0002286
14 onychogryposis 33 HP:0001805
15 paroxysmal supraventricular tachycardia 33 HP:0004763
16 short eyelashes 33 HP:0010764

Symptoms via clinical synopsis from OMIM:

58
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:

42
Skin

Publications for Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type

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
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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