MCID: ACR034
MIFTS: 28

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 20 58 71
Acrogeria 20 58 39 71
Acrometageria 57 20 58
Metageria 57 74 20
Gottron Syndrome 20 58
Familial Acrogeria 20

Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

OMIM® 57 201200
MESH via Orphanet 45 C538187
ICD10 via Orphanet 33 L90.8
UMLS via Orphanet 72 C0238590 C0406584
Orphanet 58 ORPHA2500
UMLS 71 C0238590 C0406584

Summaries for Acrogeria, Gottron Type

GARD : 20 Acrogeria, Gottron type is a premature aging syndrome which includes fragile, thin skin on the hands, feet and face and slow growth. Other symptoms include visible blood vessels, easy bruising, and hair and nail abnormalities. In general, the symptoms do not appear to get worse over time. Intelligence is normal. The cause is unknown, although several genes have been associated with it. Both autosomal recessive and autosomal dominant inheritance have been reported. Diagnosis is based on a clinical exam and the symptoms. Treatment is focused on managing the symptoms.

MalaCards based summary : Acrogeria, Gottron Type, also known as acrogeria, 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 : 74 Metageria is a cutaneous condition characterized by premature... more...

More information from OMIM: 201200

Related Diseases for Acrogeria, Gottron Type

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:

58 31 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
2 lipoatrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0100578
3 irregular hyperpigmentation 58 31 hallmark (90%) Very frequent (99-80%) HP:0007400
4 fine hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0002213
5 joint hyperflexibility 58 31 hallmark (90%) Very frequent (99-80%) HP:0005692
6 thin skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0000963
7 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
8 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
9 micrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000347
10 telangiectasia of the skin 58 31 frequent (33%) Frequent (79-30%) HP:0100585
11 convex nasal ridge 58 31 frequent (33%) Frequent (79-30%) HP:0000444
12 small hand 58 31 frequent (33%) Frequent (79-30%) HP:0200055
13 short foot 58 31 frequent (33%) Frequent (79-30%) HP:0001773
14 excessive wrinkled skin 58 31 frequent (33%) Frequent (79-30%) HP:0007392
15 skeletal dysplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002652
16 skin ulcer 58 31 occasional (7.5%) Occasional (29-5%) HP:0200042
17 prematurely aged appearance 58 Very frequent (99-80%)
18 aplasia/hypoplasia of the skin 58 Very frequent (99-80%)
19 abnormality of the skin 58 Very frequent (99-80%)

Clinical features from OMIM®:

201200 (Updated 05-Mar-2021)

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:

40
Skin, Bone

Publications for Acrogeria, Gottron Type

Articles related to Acrogeria, Gottron Type:

(show top 50) (show all 66)
# 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. 61 57
29595749 2018
2
A new lamin a mutation associated with acrogeria syndrome. 57 61
24687084 2014
3
COL3A1 mutation leading to acrogeria (Gottron Type) 57 61
10819545 2000
4
Acrogeria of the Gottron type in a mother and son. 57 61
10694296 2000
5
Hereditary Gottron's acrogeria with recessive transmission: a report of four cases in one family. 57 61
9933333 1999
6
Acrometageria: a spectrum of "premature aging" syndromes. 57 61
1488981 1992
7
Familial acrogeria (Gottron). 57 61
7426420 1980
8
[Acrogeria]. 61 57
6046455 1967
9
The premature ageing syndromes. Report of eight cases and description of a new entity named metageria. 57
4447659 1974
10
Delineation of musculocontractural Ehlers-Danlos Syndrome caused by dermatan sulfate epimerase deficiency. 61
32130795 2020
11
Sclerodermalike syndromes: Great imitators. 61
32513403 2020
12
Sudden death in acrogeria Gottron type. 61
31673870 2019
13
Autosomal recessive congenital ichthyosis: CERS3 mutations identified by a next generation sequencing panel targeting ichthyosis genes. 61
28875980 2017
14
Clinical, structural, biochemical and X-ray crystallographic correlates of pathogenicity for variants in the C-propeptide region of the COL3A1 gene. 61
25846194 2015
15
Open angle glaucoma in a case of Type IV Ehler Danlos syndrome: a rarely reported association. 61
25230966 2014
16
A rare case of acrogeria. 61
24600155 2013
17
Unknown: Papules on the knees. Elastosis perforans serpiginosa (EPS). 61
21635834 2011
18
Vascular Ehlers-Danlos syndrome: a case with fatal outcome. 61
21549076 2011
19
A new Ehlers-Danlos syndrome with craniofacial characteristics, multiple congenital contractures, progressive joint and skin laxity, and multisystem fragility-related manifestations. 61
20503305 2010
20
Ehlers-Danlos syndrome type IV. 61
17640391 2007
21
Acrogeria (Gottron type): a vascular disorder? 61
15327562 2004
22
Acrogeria with decreased gene expression of alpha1 (I) and alpha1 (III) collagen in cultured dermal fibroblasts. 61
15492417 2004
23
Familial acrogeria in a brother and sister. 61
17642895 2003
24
Transforming growth factor-beta reverses deficient expression of type (I) collagen in cultured fibroblasts of a patient with metageria. 61
9061041 1997
25
COL3A1 mutations cause variable clinical phenotypes including acrogeria and vascular rupture. 61
8881656 1996
26
A case of acrogeria associated with late-onset focal dermal elastosis. 61
8726645 1996
27
[Ehlers-Danlos type IV syndrome presenting as renovascular hypertension]. 61
7852879 1994
28
A case of acrogeria. 61
8227714 1993
29
Gottron's acrogeria and sarcoidosis. 61
8508010 1993
30
[Grotton's acrogeria with bone involvement]. 61
2258301 1990
31
Hutchinson-Gilford progeria syndrome in siblings. Report of three new cases. 61
2278013 1990
32
[A report of a case with acrogeria]. 61
3074199 1988
33
[Type IV Ehlers-Danlos syndrome associated with mitral valve prolapse: a case report]. 61
3076899 1988
34
Fibroblasts of an acrogeria patient produce normal amounts of type I and III collagen. 61
3582705 1987
35
Skeletal abnormalities of acrogeria, a progeroid syndrome. 61
3659993 1987
36
[Association of a pediatric bullous eruption, cutaneous and muscular atrophy, hyperpigmentation and dysmorphism. A new entity?]. 61
3767229 1986
37
[Type IV Ehlers-Danlos syndrome of acrogeria type]. 61
3813397 1986
38
Decreased collagen and hyaluronic acid content in lesional skin of acrogeria. 61
3743842 1986
39
[Simultaneous occurrence of metageria and Gottron's acrogeria in one family]. 61
4024679 1985
40
[Obstruction of the celiac trunk and the superior mesenteric artery]. 61
6326705 1984
41
Acrogeria with perforating elastoma and bony abnormalities. 61
6209898 1984
42
[Pseudoscleroderma and sclerodermiform states]. 61
6241436 1984
43
Cytogenetic investigations on Werner's syndrome, Acrogeria and Keratosis Palmo-Plantaris. 61
6228640 1983
44
Acrogeria. 61
28211411 1981
45
EDS IV (acrogeria): new autosomal dominant and recessive types. 61
7230200 1980
46
[Gottron's acrogeria]. 61
425684 1979
47
[The Gottron syndrome from the dentist's viewpoint, case report]. 61
282134 1978
48
Acrogeria and elastosis perforans serpiginosa [proceedings]. 61
640110 1978
49
Acrogeria. A case report. 61
881093 1977
50
[Gottron's acrogeria]. 61
1139660 1975

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
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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