MCID: ECT089
MIFTS: 26

Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Ciliary Dyskinesia

Categories: Endocrine diseases, Fetal diseases, Gastrointestinal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and...

MalaCards integrated aliases for Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Ciliary Dyskinesia:

Name: Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Ciliary Dyskinesia 57 72
Hedh Syndrome 57 53 59
Another Syndrome 53 59
Hypohidrotic Ectodermal Dysplasia with Hypothyroidism and Ciliary Dyskinesia 53
Ectodermal Dysplasia Hypohidrotic with Hypothyroidism and Ciliary Dyskinesia 53
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome 59
Hypohidrotic Ectodermal Dysplasia - Hypothyroidism - Ciliary Dyskinesia 53
Hypohidrotic Ectodermal Dysplasia with Hypothyroidism 53

Characteristics:

Orphanet epidemiological data:

59
hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
ectodermal dysplasia, hypohidrotic, with hypothyroidism and ciliary dyskinesia:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 225050
ICD10 via Orphanet 34 Q82.4
UMLS via Orphanet 73 C1857052
Orphanet 59 ORPHA1882
MedGen 42 C1857052
UMLS 72 C1857052

Summaries for Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and...

NIH Rare Diseases : 53 Hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia is a rare condition characterized by alopecia (hair loss); nail dystrophy (abnormal development of the nails); ophthalmic (eye-related) complications; thyroid dysfunction (primary hypothyroidism); hypohidrosis; ephelides (freckles); enteropathy (disease of the intestine); and respiratory tract infections due to ciliary dyskinesia. These features have lead to the acronym ANOTHER syndrome as an alternative name for the condition. The gene that causes the condition is currently unknown but it is thought to be inherited in an autosomal recessive manner. Treatment is generally symptomatic and supportive.

MalaCards based summary : Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Ciliary Dyskinesia, also known as hedh syndrome, is related to ulna and fibula, absence of, with severe limb deficiency and leber congenital amaurosis. Affiliated tissues include thyroid, skin and eye, and related phenotypes are hypothyroidism and behavioral abnormality

More information from OMIM: 225050

Related Diseases for Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and...

Diseases related to Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Ciliary Dyskinesia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 15)
# Related Disease Score Top Affiliating Genes
1 ulna and fibula, absence of, with severe limb deficiency 10.9
2 leber congenital amaurosis 10.9
3 mastocytosis, cutaneous 10.2
4 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive 10.2
5 urticaria 10.2
6 ectodermal dysplasia 10.2
7 alcohol dependence 9.5
8 breasts and/or nipples, aplasia or hypoplasia of, 1 9.5
9 otitis media 9.5
10 mckusick-kaufman syndrome 9.5
11 branchiootic syndrome 1 9.5
12 choanal atresia, posterior 9.5
13 hypothyroidism 9.5
14 trichorhinophalangeal syndrome 9.5
15 bamforth syndrome 9.5

Graphical network of the top 20 diseases related to Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Ciliary Dyskinesia:



Diseases related to Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Ciliary Dyskinesia

Symptoms & Phenotypes for Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and...

Human phenotypes related to Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Ciliary Dyskinesia:

59 32 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypothyroidism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000821
2 behavioral abnormality 59 32 hallmark (90%) Very frequent (99-80%) HP:0000708
3 recurrent respiratory infections 59 32 hallmark (90%) Very frequent (99-80%) HP:0002205
4 delayed skeletal maturation 59 32 hallmark (90%) Very frequent (99-80%) HP:0002750
5 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
6 hypohidrosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000966
7 alopecia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001596
8 sparse scalp hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0002209
9 fine hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0002213
10 dystrophic toenail 59 32 hallmark (90%) Very frequent (99-80%) HP:0001810
11 dystrophic fingernails 59 32 hallmark (90%) Very frequent (99-80%) HP:0008391
12 ciliary dyskinesia 59 32 hallmark (90%) Very frequent (99-80%) HP:0012265
13 sparse and thin eyebrow 32 hallmark (90%) HP:0000535
14 melanocytic nevus 59 32 frequent (33%) Frequent (79-30%) HP:0000995
15 lacrimation abnormality 59 32 frequent (33%) Frequent (79-30%) HP:0000632
16 abnormality of skin pigmentation 32 HP:0001000
17 urticaria 32 HP:0001025
18 recurrent infections 32 HP:0002719
19 nail dysplasia 32 HP:0002164
20 sparse eyebrow 59 Very frequent (99-80%)
21 abnormal respiratory motile cilium morphology 32 HP:0005938
22 primary hypothyroidism 32 HP:0000832
23 hypohidrotic ectodermal dysplasia 32 HP:0007607

Symptoms via clinical synopsis from OMIM:

57
Resp:
recurrent infections
ciliary dyskinesia
ciliary dysgenesis

Endo:
primary hypothyroidism

Nails:
onychodysplasia

Hair:
sparse scalp hair
sparse eyebrows
eyelashes normal

Skin:
hypohidrotic ectodermal dysplasia
urticaria pigmentosa-like skin and mucosal pigmentation

Lab:
increased mast cells and melanin deposition in skin
abnormal microtubules in bronchial cilia by electron microscopy

Clinical features from OMIM:

225050

Drugs & Therapeutics for Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and...

Search Clinical Trials , NIH Clinical Center for Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Ciliary Dyskinesia

Genetic Tests for Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and...

Anatomical Context for Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and...

MalaCards organs/tissues related to Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Ciliary Dyskinesia:

41
Thyroid, Skin, Eye

Publications for Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and...

Articles related to Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Ciliary Dyskinesia:

(show all 41)
# Title Authors PMID Year
1
A distinctive type of hypohidrotic ectodermal dysplasia featuring hypothyroidism. 8
3944674 1986
2
Hypohidrotic ectodermal dysplasia with hypothyroidism. 8
7463217 1981
3
Relationship between ciliary rootlets and smooth endoplasmic reticulum. 8
1253237 1976
4
Ciliogenesis and ciliary anomalies in thymic cysts of "nude" mice. 8
4831955 1974
5
The use of stomas in the early management of Hirschsprung disease: Findings of a national, prospective cohort study. 38
28528714 2017
6
Update on classification and diagnosis of vascular malformations. 38
28654575 2017
7
Prevalence of parvovirus in Minnesota turkeys. 38
27591277 2017
8
Mechanisms of comorbidity, continuity, and discontinuity in anxiety-related disorders. 38
27739392 2016
9
A reappraisal of Kendell and Jablensky's account of validity. 38
27133584 2016
10
The asthma-COPD overlap syndrome: do we really need another syndrome in the already complex matrix of airway disease? 38
27366057 2016
11
The epidemic of autoantibody-mediated epilepsies - insights into pathophysiology and yet another syndrome. 38
25346635 2014
12
History and molecular characteristics of a patient with terminal deletion of 14q. Is this another syndrome with a striking phenotype? 38
22391620 2012
13
Bbs8, together with the planar cell polarity protein Vangl2, is required to establish left-right asymmetry in zebrafish. 38
20643117 2010
14
Multiple bilateral impactions in an adolescent girl. 38
20381758 2010
15
[Methodology and purposes of establishing mouse and rat models for syndrome differentiation and treatment]. 38
19828100 2009
16
Characterization of a degenerative cardiomyopathy associated with domoic acid toxicity in California sea lions (Zalophus californianus). 38
19112124 2009
17
The congenital trigger thumb: is release of the first annular pulley alone sufficient to resolve the triggering? 38
17471142 2007
18
HID and KID syndromes are associated with the same connexin 26 mutation. 38
12072059 2002
19
An autosomal recessive syndrome of choanal atresia, hypothelia/athelia and thyroid gland anomalies overlapping bamforth syndrome, ANOTHER syndrome and methimazole embryopathy. 38
12002153 2002
20
[Congenital cardiopathies and syndromes in adults]. 38
12001867 2002
21
Neurologic and gastrointestinal dysfunction in cardio-facio-cutaneous syndrome: identification of a severe phenotype. 38
11078563 2000
22
Overlap of PIV syndrome, VACTERL and Pallister-Hall syndrome: clinical and molecular analysis. 38
10945658 2000
23
The role of beta 2-glycoprotein I-dependent lupus anticoagulants in the pathogenesis of the antiphospholipid syndrome. 38
11144685 2000
24
Microcephalic osteodysplastic primordial dwarfism Taybi-Linder type: report of four cases and review of the literature. 38
9800907 1998
25
[Excessive daytime sleepiness]. 38
9161572 1997
26
Case report: Klippel-Feil syndrome with coexistent hypoparathyroidism. 38
8602646 1996
27
[Therapy-resistant asthma: causes and therapy]. 38
7481319 1995
28
"Comorbidity" in an epidemiological sample: a longitudinal perspective. 38
8340444 1993
29
[Congenital deficiencies in bile acid synthesis: from diagnosis to treatment]. 38
8502858 1993
30
[HELLP--another syndrome]. 38
8441987 1993
31
[Nasal polyposis in children. Diagnostic and therapeutic problems]. 38
1456673 1992
32
Treatment dependence: preliminary description of yet another syndrome. 38
1643398 1992
33
Two other cases of ANOTHER syndrome? Family report and update. 38
2653671 1989
34
Functional somatic symptoms and hypochondriasis. A survey of empirical studies. 38
2861797 1985
35
[Effects of suloctidil on the central and peripheral nervous systems]. 38
6319248 1983
36
Mutagen hypersensitivity in Friedreich's ataxia. 38
6412618 1983
37
Neurogenic pulmonary edema associated with autonomic dysreflexia. 38
7176031 1982
38
Premaxillary agenesis, ocular hypotelorism holoprosencephaly, and extracranial anomalies in an infant with a normal karyogram. 38
6930994 1980
39
Getting alcoholics out of your office, into treatment, and back to your office. 38
258820 1979
40
The syndromes of hydatidiform mole. I. Cytogenetic and morphologic correlations. 38
686053 1978
41
Another syndrome of familial hereditary deafness. 38
6026954 1967

Variations for Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and...

Expression for Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and...

Search GEO for disease gene expression data for Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Ciliary Dyskinesia.

Pathways for Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and...

GO Terms for Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and...

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