MCID: ECT090
MIFTS: 18

Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Agenesis of the Corpus Callosum

Categories: Fetal diseases, Neuronal diseases, Rare diseases, Skin diseases

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

MalaCards integrated aliases for Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Agenesis of the Corpus Callosum:

Name: Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Agenesis of the Corpus Callosum 56
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome
Inheritance: X-linked recessive; Age of onset: Antenatal,Neonatal;

OMIM:

56
Inheritance:
autosomal recessive vs. x-linked
? contiguous gene syndrome


HPO:

31
ectodermal dysplasia, hypohidrotic, with hypothyroidism and agenesis of the corpus callosum:
Inheritance x-linked inheritance contiguous gene syndrome


Classifications:

Orphanet: 58  
Rare skin diseases
Developmental anomalies during embryogenesis


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

MalaCards based summary : Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Agenesis of the Corpus Callosum, is also known as ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome. Affiliated tissues include skin, thyroid and eye, and related phenotypes are macrocephaly and hypertelorism

More information from OMIM: 225040

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

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

Human phenotypes related to Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Agenesis of the Corpus Callosum:

58 31 (show all 45)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000256
2 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
3 low-set ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000369
4 agenesis of corpus callosum 58 31 hallmark (90%) Very frequent (99-80%) HP:0001274
5 frontal bossing 58 31 hallmark (90%) Very frequent (99-80%) HP:0002007
6 gait disturbance 58 31 hallmark (90%) Very frequent (99-80%) HP:0001288
7 hydrocephalus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000238
8 depressed nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0005280
9 short nose 58 31 hallmark (90%) Very frequent (99-80%) HP:0003196
10 downslanted palpebral fissures 58 31 hallmark (90%) Very frequent (99-80%) HP:0000494
11 feeding difficulties in infancy 58 31 hallmark (90%) Very frequent (99-80%) HP:0008872
12 intellectual disability, severe 58 31 hallmark (90%) Very frequent (99-80%) HP:0010864
13 dry skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0000958
14 retrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000278
15 thin skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0000963
16 microdontia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000691
17 hypohidrosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000966
18 abnormality of immune system physiology 58 31 hallmark (90%) Very frequent (99-80%) HP:0010978
19 ventriculomegaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0002119
20 aplasia/hypoplasia of the cerebellum 58 31 hallmark (90%) Very frequent (99-80%) HP:0007360
21 hypoplasia of the zygomatic bone 58 31 hallmark (90%) Very frequent (99-80%) HP:0010669
22 abnormality of dental enamel 58 31 hallmark (90%) Very frequent (99-80%) HP:0000682
23 fine hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0002213
24 hypoplasia of penis 58 31 hallmark (90%) Very frequent (99-80%) HP:0008736
25 aplasia/hypoplasia of the eyebrow 58 31 hallmark (90%) Very frequent (99-80%) HP:0100840
26 pectus excavatum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000767
27 hypothyroidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000821
28 muscular hypotonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001252
29 inguinal hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000023
30 cryptorchidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000028
31 polyhydramnios 58 31 occasional (7.5%) Occasional (29-5%) HP:0001561
32 cleft palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000175
33 epicanthus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000286
34 deeply set eye 58 31 occasional (7.5%) Occasional (29-5%) HP:0000490
35 sandal gap 58 31 occasional (7.5%) Occasional (29-5%) HP:0001852
36 supernumerary nipple 58 31 occasional (7.5%) Occasional (29-5%) HP:0002558
37 aplastic/hypoplastic toenail 58 31 occasional (7.5%) Occasional (29-5%) HP:0010624
38 abnormality of fibula morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0002991
39 abnormality of metabolism/homeostasis 31 HP:0001939
40 abnormality of the skeletal system 31 HP:0000924
41 goiter 31 HP:0000853
42 intellectual disability, progressive 31 HP:0006887
43 abnormality of the eyelid 58 Occasional (29-5%)
44 primary hypothyroidism 31 HP:0000832
45 hypohidrotic ectodermal dysplasia 31 HP:0007607

Symptoms via clinical synopsis from OMIM:

56
Neuro:
agenesis of corpus callosum
severe mental retardation

Skin:
hypohidrotic ectodermal dysplasia

Lab:
low t3 and t4
elevated tsh

Endo:
primary hypothyroidism

Radiology:
absent normal thyroid and ectopic goiter on technetium 99 thyroid scintigram

Clinical features from OMIM:

225040

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

Search Clinical Trials , NIH Clinical Center for Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Agenesis of the Corpus Callosum

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 Agenesis of the Corpus Callosum:

40
Skin, Thyroid, Eye, Bone, Cerebellum

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

Articles related to Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Agenesis of the Corpus Callosum:

# Title Authors PMID Year
1
Hypohidrotic ectodermal dysplasia, central nervous system malformation, and distinct facial features: confirmation of a distinct entity? 56
8474109 1993
2
Hypohidrotic ectodermal dysplasia, primary hypothyroidism, and agenesis of the corpus callosum. 56
2769725 1989

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 Agenesis of the Corpus Callosum.

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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57 OMIM via Orphanet
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63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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