MCID: ACR034
MIFTS: 24

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 58 54 60 74
Acrometageria 58 54 60
Metageria 58 77 54
Acrogeria 54 60 74
Gottron Syndrome 54 60
Familial Acrogeria 54

Classifications:

Orphanet: 60  
Rare skin diseases


External Ids:

OMIM 58 201200
MESH via Orphanet 46 C538187
ICD10 via Orphanet 35 L90.8
UMLS via Orphanet 75 C0238590 C0406584
Orphanet 60 ORPHA2500

Summaries for Acrogeria, Gottron Type

NIH Rare Diseases : 54 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 short stature and lipoatrophy

Wikipedia : 77 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:

(show all 12)
# Related Disease Score Top Affiliating Genes
1 ehlers-danlos syndrome, classic-like, 2 11.3
2 ehlers-danlos syndrome, periodontal type, 1 11.1
3 ehlers-danlos syndrome, vascular type 10.2
4 werner syndrome 10.2
5 aging 10.1
6 elastosis perforans serpiginosa 10.1
7 keratosis 10.1
8 elastoma 10.1
9 late-onset focal dermal elastosis 10.1
10 hepatitis 10.0
11 hepatitis b 10.0
12 scleromyxedema 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

Human phenotypes related to Acrogeria, Gottron Type:

60 33 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0004322
2 lipoatrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0100578
3 joint hyperflexibility 60 33 hallmark (90%) Very frequent (99-80%) HP:0005692
4 thin skin 60 33 hallmark (90%) Very frequent (99-80%) HP:0000963
5 irregular hyperpigmentation 60 33 hallmark (90%) Very frequent (99-80%) HP:0007400
6 fine hair 60 33 hallmark (90%) Very frequent (99-80%) HP:0002213
7 intellectual disability 60 33 frequent (33%) Frequent (79-30%) HP:0001249
8 scoliosis 60 33 frequent (33%) Frequent (79-30%) HP:0002650
9 micrognathia 60 33 frequent (33%) Frequent (79-30%) HP:0000347
10 short foot 60 33 frequent (33%) Frequent (79-30%) HP:0001773
11 small hand 60 33 frequent (33%) Frequent (79-30%) HP:0200055
12 telangiectasia of the skin 60 33 frequent (33%) Frequent (79-30%) HP:0100585
13 convex nasal ridge 60 33 frequent (33%) Frequent (79-30%) HP:0000444
14 excessive wrinkled skin 60 33 frequent (33%) Frequent (79-30%) HP:0007392
15 skeletal dysplasia 60 33 occasional (7.5%) Occasional (29-5%) HP:0002652
16 skin ulcer 60 33 occasional (7.5%) Occasional (29-5%) HP:0200042
17 prematurely aged appearance 60 Very frequent (99-80%)
18 aplasia/hypoplasia of the skin 60 Very frequent (99-80%)
19 abnormality of the skin 60 Very frequent (99-80%)

Clinical features from OMIM:

201200

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:

42
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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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