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 52 24 70 68
 
Fbcg1 24 70

Characteristics:

HPO:

64
fibrochondrogenesis 1:
Inheritance: autosomal recessive inheritance
Mortality/Aging: stillbirth

Classifications:



External Ids:

OMIM52 228520
MeSH39 D010009

Summaries for Fibrochondrogenesis 1

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OMIM:52 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:70 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 & Phenotypes 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:

 64 (show all 46)
id Description HPO Frequency HPO Source Accession
1 narrow mouth64 HP:0000160
2 cleft palate64 HP:0000175
3 wide anterior fontanel64 HP:0000260
4 malar flattening64 HP:0000272
5 long philtrum64 HP:0000343
6 low-set ears64 HP:0000369
7 abnormality of the pinna64 HP:0000377
8 anteverted nares64 HP:0000463
9 short neck64 HP:0000470
10 megalocornea64 HP:0000485
11 proptosis64 HP:0000520
12 short ribs64 HP:0000773
13 hypoplastic scapulae64 HP:0000882
14 thin ribs64 HP:0000883
15 long clavicles64 HP:0000890
16 anterior rib cupping64 HP:0000907
17 posterior rib cupping64 HP:0000922
18 platyspondyly64 HP:0000926
19 dumbbell-shaped long bone64 HP:0000947
20 protuberant abdomen64 HP:0001538
21 omphalocele64 HP:0001539
22 patent foramen ovale64 HP:0001655
23 short foot64 HP:0001773
24 hydrops fetalis64 HP:0001789
25 hypoplastic toenails64 HP:0001800
26 hypoplastic fingernail64 HP:0001804
27 frontal bossing64 HP:0002007
28 short long bone64 HP:0003026
29 fibular hypoplasia64 HP:0003038
30 hypoplastic ischia64 HP:0003175
31 short nose64 HP:0003196
32 narrow greater sacrosciatic notches64 HP:0003375
33 clinodactyly of the 5th finger64 HP:0004209
34 short palm64 HP:0004279
35 thoracic hypoplasia64 HP:0005257
36 depressed nasal bridge64 HP:0005280
37 widely patent coronal suture64 HP:0005442
38 widely patent sagittal suture64 HP:0005476
39 broad long bones64 HP:0005622
40 thin clavicles64 HP:0006645
41 posterior vertebral hypoplasia64 HP:0008451
42 rhizomelia64 HP:0008905
43 joint contracture of the hand64 HP:0009473
44 camptodactyly64 HP:0012385
45 broad ischia64 HP:0100865
46 small hand64 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:

36
Bone

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:

70
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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet