MCID: ACR034
MIFTS: 25

Acrogeria, Gottron Type

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Acrogeria, Gottron Type

MalaCards integrated aliases for Acrogeria, Gottron Type:

Name: Acrogeria, Gottron Type 57 53 59 73
Acrometageria 57 53 59
Metageria 57 76 53
Acrogeria 53 59 73
Gottron Syndrome 53 59
Familial Acrogeria 53

Classifications:

Orphanet: 59  
Rare skin diseases


External Ids:

OMIM 57 201200
Orphanet 59 ORPHA2500
MESH via Orphanet 45 C538187
UMLS via Orphanet 74 C0238590 C0406584
ICD10 via Orphanet 34 L90.8

Summaries for Acrogeria, Gottron Type

NIH Rare Diseases : 53 Acrogeria, Gottron type is a premature aging syndrome. Characteristic signs include fragile, thin skin on the hands and feet. Other parts of the body (e.g., face, forearms, and lower legs) are variably affected. It is generally considered to be a mild, nonprogressive, congenital form of skin atrophy due to the loss of the fatty tissue directly under the skin. Other symptoms reported in individual cases include small hands and feet, prominent veins on the chest, small stature, small jaw, premature senility, premature hair greying, endocrine disturbances, and cataracts. Currently the cause of this condition is unknown. 

MalaCards based summary : Acrogeria, Gottron Type, also known as acrometageria, is related to ehlers-danlos syndrome, classic-like, 2 and ehlers-danlos syndrome, periodontal type, 1. An important gene associated with Acrogeria, Gottron Type is COL3A1 (Collagen Type III Alpha 1 Chain). Affiliated tissues include skin, and related phenotypes are intellectual disability and scoliosis

Wikipedia : 76 Metageria is a cutaneous condition characterized by premature... more...

Description from OMIM: 201200

Related Diseases for Acrogeria, Gottron Type

Diseases related to Acrogeria, Gottron Type via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 ehlers-danlos syndrome, classic-like, 2 11.2
2 ehlers-danlos syndrome, periodontal type, 1 11.1
3 werner syndrome 10.2
4 aging 10.1
5 ehlers-danlos syndrome, vascular type 10.0
6 elastosis perforans serpiginosa 10.0
7 keratosis 10.0
8 elastoma 10.0
9 late-onset focal dermal elastosis 10.0

Graphical network of the top 20 diseases related to Acrogeria, Gottron Type:



Diseases related to Acrogeria, Gottron Type

Symptoms & Phenotypes for Acrogeria, Gottron Type

Clinical features from OMIM:

201200

Human phenotypes related to Acrogeria, Gottron Type:

59 32 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 59 32 frequent (33%) Frequent (79-30%) HP:0001249
2 scoliosis 59 32 frequent (33%) Frequent (79-30%) HP:0002650
3 skeletal dysplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002652
4 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
5 lipoatrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0100578
6 micrognathia 59 32 frequent (33%) Frequent (79-30%) HP:0000347
7 joint hyperflexibility 59 32 hallmark (90%) Very frequent (99-80%) HP:0005692
8 thin skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0000963
9 short foot 59 32 frequent (33%) Frequent (79-30%) HP:0001773
10 skin ulcer 59 32 occasional (7.5%) Occasional (29-5%) HP:0200042
11 small hand 59 32 frequent (33%) Frequent (79-30%) HP:0200055
12 telangiectasia of the skin 59 32 frequent (33%) Frequent (79-30%) HP:0100585
13 irregular hyperpigmentation 59 32 hallmark (90%) Very frequent (99-80%) HP:0007400
14 fine hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0002213
15 convex nasal ridge 59 32 frequent (33%) Frequent (79-30%) HP:0000444
16 excessive wrinkled skin 59 32 frequent (33%) Frequent (79-30%) HP:0007392
17 prematurely aged appearance 59 Very frequent (99-80%)
18 aplasia/hypoplasia of the skin 59 Very frequent (99-80%)
19 abnormality of the skin 59 Very frequent (99-80%)

Drugs & Therapeutics for Acrogeria, Gottron Type

Search Clinical Trials , NIH Clinical Center for Acrogeria, Gottron Type

Genetic Tests for Acrogeria, Gottron Type

Anatomical Context for Acrogeria, Gottron Type

MalaCards organs/tissues related to Acrogeria, Gottron Type:

41
Skin

Publications for Acrogeria, Gottron Type

Articles related to Acrogeria, Gottron Type:

# Title Authors Year
1
Management of patient with acrometageria for routine dental treatment: A case report. ( 26260731 )
2016
2
COL3A1 mutation leading to acrogeria (Gottron Type). ( 10819545 )
2000
3
Acrometageria: a spectrum of "premature aging" syndromes. ( 1488981 )
1992

Variations for Acrogeria, Gottron Type

Expression for Acrogeria, Gottron Type

Search GEO for disease gene expression data for Acrogeria, Gottron Type.

Pathways for Acrogeria, Gottron Type

GO Terms for Acrogeria, Gottron Type

Sources for Acrogeria, Gottron Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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