MCID: ACR034
MIFTS: 26

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 72
Acrometageria 57 53 59
Metageria 57 75 53
Acrogeria 53 59 72
Gottron Syndrome 53 59
Familial Acrogeria 53

Classifications:

Orphanet: 59  
Rare skin diseases


External Ids:

OMIM 57 201200
MESH via Orphanet 45 C538187
ICD10 via Orphanet 34 L90.8
UMLS via Orphanet 73 C0238590 C0406584
Orphanet 59 ORPHA2500
UMLS 72 C0238590 C0406584

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 bone, and related phenotypes are short stature and lipoatrophy

Wikipedia : 75 Metageria is a cutaneous condition characterized by premature... more...

More information 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 40)
# Related Disease Score Top Affiliating Genes
1 ehlers-danlos syndrome, classic-like, 2 11.4
2 ehlers-danlos syndrome, periodontal type, 1 11.2
3 ehlers-danlos syndrome 10.4
4 hutchinson-gilford progeria syndrome 10.4
5 skin atrophy 10.4
6 scleroderma, familial progressive 10.3
7 perniosis 10.3
8 bunion 10.3
9 ehlers-danlos syndrome, vascular type 10.3
10 werner syndrome 10.3
11 dowling-degos disease 1 10.3
12 premature aging 10.3
13 elastosis perforans serpiginosa 10.2
14 down syndrome 10.2
15 autism spectrum disorder 10.2
16 acroosteolysis 10.1
17 aging 10.1
18 hypothyroidism 10.1
19 hyperuricemia 10.1
20 hypogonadism 10.1
21 ankylosis 10.1
22 arteriosclerosis 10.1
23 hypogonadotropism 10.1
24 exophthalmos 10.1
25 sarcoidosis 1 10.1
26 phenylketonuria 10.1
27 yemenite deaf-blind hypopigmentation syndrome 10.1
28 telangiectasis 10.1
29 skin sarcoidosis 10.1
30 keratosis 10.1
31 cockayne syndrome 10.1
32 myotonia 10.1
33 progeroid syndrome 10.1
34 elastoma 10.1
35 late-onset focal dermal elastosis 10.1
36 avascular necrosis 10.1
37 viral hepatitis 10.0
38 plasmacytoma 10.0
39 scleromyxedema 10.0
40 encephalopathy 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:

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

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:

41
Skin, Bone

Publications for Acrogeria, Gottron Type

Articles related to Acrogeria, Gottron Type:

(show all 16)
# Title Authors PMID Year
1
A novel in-frame deletion in ZMPSTE24 is associated with autosomal recessive acrogeria (Gottron type) in an extended consanguineous family. 38 8
29595749 2018
2
COL3A1 mutation leading to acrogeria (Gottron Type) 38 8
10819545 2000
3
Acrometageria: a spectrum of "premature aging" syndromes. 38 8
1488981 1992
4
The premature ageing syndromes. Report of eight cases and description of a new entity named metageria. 38 8
4447659 1974
5
A new lamin a mutation associated with acrogeria syndrome. 8
24687084 2014
6
Acrogeria of the Gottron type in a mother and son. 8
10694296 2000
7
Hereditary Gottron's acrogeria with recessive transmission: a report of four cases in one family. 8
9933333 1999
8
Familial acrogeria (Gottron). 8
7426420 1980
9
[Acrogeria]. 8
6046455 1967
10
Reduced phosphorylation of transcription factor Elk-1 in cultured fibroblasts of a patient with premature aging syndrome and insulin resistance. 38
15772901 2005
11
Acrogeria (Gottron type): a vascular disorder? 38
15327562 2004
12
[Metageria--clinical manifestations of a premature aging syndrome]. 38
9410852 1997
13
Transforming growth factor-beta reverses deficient expression of type (I) collagen in cultured fibroblasts of a patient with metageria. 38
9061041 1997
14
[Grotton's acrogeria with bone involvement]. 38
2258301 1990
15
[Simultaneous occurrence of metageria and Gottron's acrogeria in one family]. 38
4024679 1985
16
Idiopathic arterial calcification of infancy. 38
521302 1979

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

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69 SNOMED-CT via HPO
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71 Tocris
72 UMLS
73 UMLS via Orphanet
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