MCID: ACR034
MIFTS: 23

Acrogeria, Gottron Type

Categories: Rare diseases, Skin diseases, Genetic 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, vascular type 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 micrognathia and convex nasal ridge

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, vascular type 10.9
2 ehlers-danlos syndrome, periodontal type, 1 10.9
3 ehlers-danlos syndrome, classic-like, 2 10.9
4 type i 10.0
5 elastosis perforans serpiginosa 9.9
6 elastoma 9.9
7 late-onset focal dermal elastosis 9.9

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 micrognathia 59 32 frequent (33%) Frequent (79-30%) HP:0000347
2 convex nasal ridge 59 32 frequent (33%) Frequent (79-30%) HP:0000444
3 thin skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0000963
4 intellectual disability 59 32 frequent (33%) Frequent (79-30%) HP:0001249
5 short foot 59 32 frequent (33%) Frequent (79-30%) HP:0001773
6 fine hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0002213
7 scoliosis 59 32 frequent (33%) Frequent (79-30%) HP:0002650
8 skeletal dysplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002652
9 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
10 joint hyperflexibility 59 32 hallmark (90%) Very frequent (99-80%) HP:0005692
11 excessive wrinkled skin 59 32 frequent (33%) Frequent (79-30%) HP:0007392
12 irregular hyperpigmentation 59 32 hallmark (90%) Very frequent (99-80%) HP:0007400
13 lipoatrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0100578
14 telangiectasia of the skin 59 32 frequent (33%) Frequent (79-30%) HP:0100585
15 skin ulcer 59 32 occasional (7.5%) Occasional (29-5%) HP:0200042
16 small hand 59 32 frequent (33%) Frequent (79-30%) HP:0200055
17 abnormality of the skin 59 Very frequent (99-80%)
18 prematurely aged appearance 59 Very frequent (99-80%)
19 aplasia/hypoplasia 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
COL3A1 mutation leading to acrogeria (Gottron Type). ( 10819545 )
2000

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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