MCID: ECT089
MIFTS: 24

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 58 74
Hedh Syndrome 58 54 60
Another Syndrome 54 60
Hypohidrotic Ectodermal Dysplasia with Hypothyroidism and Ciliary Dyskinesia 54
Ectodermal Dysplasia Hypohidrotic with Hypothyroidism and Ciliary Dyskinesia 54
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome 60
Hypohidrotic Ectodermal Dysplasia - Hypothyroidism - Ciliary Dyskinesia 54
Hypohidrotic Ectodermal Dysplasia with Hypothyroidism 54

Characteristics:

Orphanet epidemiological data:

60
hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
ectodermal dysplasia, hypohidrotic, with hypothyroidism and ciliary dyskinesia:
Inheritance autosomal recessive inheritance


Classifications:



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

NIH Rare Diseases : 54 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 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive. Affiliated tissues include thyroid, eye and skin, and related phenotypes are hypothyroidism and behavioral abnormality

Description 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:

# Related Disease Score Top Affiliating Genes
1 ulna and fibula, absence of, with severe limb deficiency 10.8
2 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive 10.2
3 ectodermal dysplasia 10.2
4 hypothyroidism 10.2
5 apparent mineralocorticoid excess 9.5
6 choanal atresia, posterior 9.5
7 trichorhinophalangeal syndrome 9.5
8 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:

60 33 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypothyroidism 60 33 hallmark (90%) Very frequent (99-80%) HP:0000821
2 behavioral abnormality 60 33 hallmark (90%) Very frequent (99-80%) HP:0000708
3 recurrent respiratory infections 60 33 hallmark (90%) Very frequent (99-80%) HP:0002205
4 delayed skeletal maturation 60 33 hallmark (90%) Very frequent (99-80%) HP:0002750
5 short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0004322
6 hypohidrosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000966
7 alopecia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001596
8 sparse scalp hair 60 33 hallmark (90%) Very frequent (99-80%) HP:0002209
9 fine hair 60 33 hallmark (90%) Very frequent (99-80%) HP:0002213
10 dystrophic toenail 60 33 hallmark (90%) Very frequent (99-80%) HP:0001810
11 dystrophic fingernails 60 33 hallmark (90%) Very frequent (99-80%) HP:0008391
12 ciliary dyskinesia 60 33 hallmark (90%) Very frequent (99-80%) HP:0012265
13 sparse and thin eyebrow 33 hallmark (90%) HP:0000535
14 melanocytic nevus 60 33 frequent (33%) Frequent (79-30%) HP:0000995
15 lacrimation abnormality 60 33 frequent (33%) Frequent (79-30%) HP:0000632
16 recurrent infections 33 HP:0002719
17 urticaria 33 HP:0001025
18 nail dysplasia 33 HP:0002164
19 abnormality of skin pigmentation 33 HP:0001000
20 sparse eyebrow 60 Very frequent (99-80%)
21 abnormal respiratory motile cilium morphology 33 HP:0005938
22 primary hypothyroidism 33 HP:0000832
23 hypohidrotic ectodermal dysplasia 33 HP:0007607

Symptoms via clinical synopsis from OMIM:

58
Resp:
recurrent infections
ciliary dyskinesia
ciliary dysgenesis

Endo:
primary hypothyroidism

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

Hair:
sparse scalp hair
sparse eyebrows
eyelashes normal

Nails:
onychodysplasia

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:

42
Thyroid, Eye, Skin

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

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

# Title Authors Year
1
An autosomal recessive syndrome of choanal atresia, hypothelia/athelia and thyroid gland anomalies overlapping bamforth syndrome, ANOTHER syndrome and methimazole embryopathy. ( 12002153 )
2002

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...

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

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70 SNOMED-CT via HPO
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75 UMLS via Orphanet
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