MCID: ART037
MIFTS: 24

Arthrogryposis and Ectodermal Dysplasia

Categories: Fetal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Arthrogryposis and Ectodermal Dysplasia

MalaCards integrated aliases for Arthrogryposis and Ectodermal Dysplasia:

Name: Arthrogryposis and Ectodermal Dysplasia 56 52 29 71
Trichooculodermovertebral Syndrome 56 52
Alves Syndrome 56 52
Todv Syndrome 56 52
Ectodermal Dysplasia Syndrome of Hypotrichosis, Onychodysplasia, Hyperkeratosis, Kyphoscoliosis, and Cataract 52
Ectodermal Dysplasia - Cataracts - Kyphoscoliosis 52
Arthrogryposis-Ectodermal Dysplasia Syndrome 58
Tricho-Oculo-Dermo-Vertebral Syndrome 52
Alves-Dos Santos-Castelo Syndrome 52
Stoll-Alembik-Finck Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
arthrogryposis-ectodermal dysplasia syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
arthrogryposis and ectodermal dysplasia:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare skin diseases
Developmental anomalies during embryogenesis


Summaries for Arthrogryposis and Ectodermal Dysplasia

MalaCards based summary : Arthrogryposis and Ectodermal Dysplasia, also known as trichooculodermovertebral syndrome, is related to stoll alembik finck syndrome and palmoplantar keratoderma and congenital alopecia 1, and has symptoms including dry skin Affiliated tissues include skin and skeletal muscle, and related phenotypes are abnormal facial shape and microcephaly

More information from OMIM: 601701

Related Diseases for Arthrogryposis and Ectodermal Dysplasia

Diseases related to Arthrogryposis and Ectodermal Dysplasia via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 stoll alembik finck syndrome 12.9
2 palmoplantar keratoderma and congenital alopecia 1 10.1
3 keratosis 10.1
4 alkuraya-kucinskas syndrome 10.1
5 ectodermal dysplasia 10.1
6 congenital amyoplasia 10.1

Graphical network of the top 20 diseases related to Arthrogryposis and Ectodermal Dysplasia:



Diseases related to Arthrogryposis and Ectodermal Dysplasia

Symptoms & Phenotypes for Arthrogryposis and Ectodermal Dysplasia

Human phenotypes related to Arthrogryposis and Ectodermal Dysplasia:

31 (show all 29)
# Description HPO Frequency HPO Source Accession
1 abnormal facial shape 31 HP:0001999
2 microcephaly 31 HP:0000252
3 short stature 31 HP:0004322
4 brachycephaly 31 HP:0000248
5 skeletal muscle atrophy 31 HP:0003202
6 dry skin 31 HP:0000958
7 hyperkeratosis 31 HP:0000962
8 cleft palate 31 HP:0000175
9 hypohidrosis 31 HP:0000966
10 abnormal dermatoglyphics 31 HP:0007477
11 atypical scarring of skin 31 HP:0000987
12 kyphoscoliosis 31 HP:0002751
13 diabetes mellitus 31 HP:0000819
14 cleft upper lip 31 HP:0000204
15 abnormality of dental enamel 31 HP:0000682
16 blepharophimosis 31 HP:0000581
17 arthrogryposis multiplex congenita 31 HP:0002804
18 nail dysplasia 31 HP:0002164
19 oral cleft 31 HP:0000202
20 oligodontia 31 HP:0000677
21 camptodactyly 31 HP:0012385
22 absent eyebrow 31 HP:0002223
23 trichodysplasia 31 HP:0002552
24 ectodermal dysplasia 31 HP:0000968
25 entropion 31 HP:0000621
26 narrow palpebral fissure 31 HP:0045025
27 joint contracture of the hand 31 HP:0009473
28 nuclear cataract 31 HP:0100018
29 trichiasis 31 HP:0001128

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Head:
microcephaly
brachycephaly

Skin Nails Hair Skin:
dry skin
hyperkeratosis
hypohidrosis
ectodermal dysplasia
scaling, hyperchromic spots on limbs
more
Endocrine Features:
diabetes mellitus

Skeletal Hands:
camptodactyly
arthrogryposis

Head And Neck Mouth:
cleft lip/palate

Skin Nails Hair Nails:
onychodysplasia

Head And Neck Face:
unusual facial appearance

Growth Height:
short stature

Skeletal Spine:
kyphoscoliosis

Head And Neck Teeth:
oligodontia
enamel abnormalities

Head And Neck Eyes:
entropion
trichiasis
narrow palpebral fissures
bilateral nuclear cataract

Muscle Soft Tissue:
amyotrophy

Skin Nails Hair Hair:
absent eyebrows
generalized trichodysplasia

Skeletal Limbs:
minor malformations of limbs

Clinical features from OMIM:

601701

UMLS symptoms related to Arthrogryposis and Ectodermal Dysplasia:


dry skin

Drugs & Therapeutics for Arthrogryposis and Ectodermal Dysplasia

Search Clinical Trials , NIH Clinical Center for Arthrogryposis and Ectodermal Dysplasia

Genetic Tests for Arthrogryposis and Ectodermal Dysplasia

Genetic tests related to Arthrogryposis and Ectodermal Dysplasia:

# Genetic test Affiliating Genes
1 Arthrogryposis and Ectodermal Dysplasia 29

Anatomical Context for Arthrogryposis and Ectodermal Dysplasia

MalaCards organs/tissues related to Arthrogryposis and Ectodermal Dysplasia:

40
Skin, Skeletal Muscle

Publications for Arthrogryposis and Ectodermal Dysplasia

Articles related to Arthrogryposis and Ectodermal Dysplasia:

# Title Authors PMID Year
1
Arthrogryposis and ectodermal dysplasia. 61 56
7068160 1982
2
Palmoplantar keratoderma, pseudo-ainhum, and universal atrichia: A new patient and review of the palmoplantar keratoderma-congenital alopecia syndrome. 56
20635335 2010
3
Possible second case of tricho-oculo-dermo-vertebral (Alves) syndrome. 56
8488878 1993
4
Arthrogryposis, ectodermal dysplasia and other anomalies in two sisters. 56
1590979 1992
5
An autosomal recessive ectodermal dysplasia syndrome of hypotrichosis, onychodysplasia, hyperkeratosis, kyphoscoliosis, catartact, and other manifestations. 56
7304669 1981

Variations for Arthrogryposis and Ectodermal Dysplasia

Expression for Arthrogryposis and Ectodermal Dysplasia

Search GEO for disease gene expression data for Arthrogryposis and Ectodermal Dysplasia.

Pathways for Arthrogryposis and Ectodermal Dysplasia

GO Terms for Arthrogryposis and Ectodermal Dysplasia

Sources for Arthrogryposis and Ectodermal Dysplasia

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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