MCID: FBR029
MIFTS: 19

Fibrochondrogenesis 1 malady

Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Fibrochondrogenesis 1

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Aliases & Descriptions for Fibrochondrogenesis 1:

Name: Fibrochondrogenesis 1 51 24 69 67
 
Fbcg1 24 69

Characteristics:

HPO:

63
fibrochondrogenesis 1:
Inheritance: autosomal recessive inheritance
Mortality/Aging: stillbirth

Classifications:



External Ids:

OMIM51 228520
MeSH38 D010009

Summaries for Fibrochondrogenesis 1

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OMIM:51 Fibrochondrogenesis is a severe, autosomal recessive, short-limbed skeletal dysplasia clinically characterized by a... (228520) more...

MalaCards based summary: Fibrochondrogenesis 1, also known as fbcg1, is related to fibrochondrogenesis and fibrochondrogenesis 2, and has symptoms including narrow mouth, cleft palate and wide anterior fontanel. An important gene associated with Fibrochondrogenesis 1 is COL11A1 (Collagen Type XI Alpha 1 Chain). Affiliated tissues include bone.

UniProtKB/Swiss-Prot:69 Fibrochondrogenesis 1: A severe short-limbed skeletal dysplasia characterized by broad long- bone metaphyses, pear-shaped vertebral bodies, and characteristic morphology of the growth plate, in which the chondrocytes have a fibroblastic appearance and there are regions of fibrous cartilage extracellular matrix. Clinical features include a flat midface with a small nose and anteverted nares, significant shortening of all limb segments but relatively normal hands and feet, and a small bell-shaped thorax with a protuberant abdomen.

Related Diseases for Fibrochondrogenesis 1

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Diseases in the Fibrochondrogenesis family:

fibrochondrogenesis 1 Fibrochondrogenesis 2

Diseases related to Fibrochondrogenesis 1 via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1fibrochondrogenesis10.9
2fibrochondrogenesis 210.9

Symptoms for Fibrochondrogenesis 1

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Symptoms by clinical synopsis from OMIM:

228520

Clinical features from OMIM:

228520

Human phenotypes related to Fibrochondrogenesis 1:

 63 (show all 46)
id Description HPO Frequency HPO Source Accession
1 narrow mouth63 HP:0000160
2 cleft palate63 HP:0000175
3 wide anterior fontanel63 HP:0000260
4 malar flattening63 HP:0000272
5 long philtrum63 HP:0000343
6 low-set ears63 HP:0000369
7 abnormality of the pinna63 HP:0000377
8 anteverted nares63 HP:0000463
9 short neck63 HP:0000470
10 megalocornea63 HP:0000485
11 proptosis63 HP:0000520
12 short ribs63 HP:0000773
13 hypoplastic scapulae63 HP:0000882
14 thin ribs63 HP:0000883
15 long clavicles63 HP:0000890
16 anterior rib cupping63 HP:0000907
17 posterior rib cupping63 HP:0000922
18 platyspondyly63 HP:0000926
19 dumbbell-shaped long bone63 HP:0000947
20 protuberant abdomen63 HP:0001538
21 omphalocele63 HP:0001539
22 patent foramen ovale63 HP:0001655
23 short foot63 HP:0001773
24 hydrops fetalis63 HP:0001789
25 hypoplastic toenails63 HP:0001800
26 hypoplastic fingernail63 HP:0001804
27 frontal bossing63 HP:0002007
28 short long bone63 HP:0003026
29 fibular hypoplasia63 HP:0003038
30 hypoplastic ischia63 HP:0003175
31 short nose63 HP:0003196
32 narrow greater sacrosciatic notches63 HP:0003375
33 clinodactyly of the 5th finger63 HP:0004209
34 short palm63 HP:0004279
35 thoracic hypoplasia63 HP:0005257
36 depressed nasal bridge63 HP:0005280
37 widely patent coronal suture63 HP:0005442
38 widely patent sagittal suture63 HP:0005476
39 broad long bones63 HP:0005622
40 thin clavicles63 HP:0006645
41 posterior vertebral hypoplasia63 HP:0008451
42 rhizomelia63 HP:0008905
43 joint contracture of the hand63 HP:0009473
44 camptodactyly63 HP:0012385
45 broad ischia63 HP:0100865
46 small hand63 HP:0200055

Drugs & Therapeutics for Fibrochondrogenesis 1

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Fibrochondrogenesis 1

Genetic Tests for Fibrochondrogenesis 1

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Genetic tests related to Fibrochondrogenesis 1:

id Genetic test Affiliating Genes
1 Fibrochondrogenesis 124 COL11A1

Anatomical Context for Fibrochondrogenesis 1

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MalaCards organs/tissues related to Fibrochondrogenesis 1:

35
Bone

Animal Models for Fibrochondrogenesis 1 or affiliated genes

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Publications for Fibrochondrogenesis 1

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Variations for Fibrochondrogenesis 1

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UniProtKB/Swiss-Prot genetic disease variations for Fibrochondrogenesis 1:

69
id Symbol AA change Variation ID SNP ID
1COL11A1p.Gly796ArgVAR_065904
2COL11A1p.Gly1042ArgVAR_065905

Clinvar genetic disease variations for Fibrochondrogenesis 1:

5
id Gene Variation Type Significance SNP ID Assembly Location
1COL11A1NM_001854.3(COL11A1): c.4603T> C (p.Ser1535Pro)SNVrisk factorrs1676486GRCh37Chr 1, 103354138: 103354138
2COL11A1NM_001854.3(COL11A1): c.1786dupG (p.Ala596Glyfs)duplicationPathogenicrs730882190GRCh37Chr 1, 103471629: 103471629
3COL11A1NM_080629.2(COL11A1): c.3277G> C (p.Gly1093Arg)SNVPathogenicrs397514455GRCh37Chr 1, 103412440: 103412440
4COL11A1NM_080629.2(COL11A1): c.2386G> C (p.Gly796Arg)SNVPathogenicrs387906611GRCh37Chr 1, 103455118: 103455118
5COL11A1COL11A1, GLY1315TERundetermined variantPathogenicChr na, -1: -1

Expression for genes affiliated with Fibrochondrogenesis 1

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Search GEO for disease gene expression data for Fibrochondrogenesis 1.

Pathways for genes affiliated with Fibrochondrogenesis 1

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GO Terms for genes affiliated with Fibrochondrogenesis 1

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Sources for Fibrochondrogenesis 1

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet