FBCG2
MCID: FBR030
MIFTS: 26

Fibrochondrogenesis 2 (FBCG2)

Categories: Bone diseases, Ear diseases, Fetal diseases, Genetic diseases, Rare diseases, Respiratory diseases, Smell/Taste diseases

Aliases & Classifications for Fibrochondrogenesis 2

MalaCards integrated aliases for Fibrochondrogenesis 2:

Name: Fibrochondrogenesis 2 57 12 72 29 13 6 70
Fbcg2 57 72
Fibrochondrogenesis, Type 2 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive
autosomal dominant


HPO:

31

Classifications:



External Ids:

Disease Ontology 12 DOID:0080673
OMIM® 57 614524
OMIM Phenotypic Series 57 PS228520
MeSH 44 D010009
MedGen 41 C3281128
UMLS 70 C3281128

Summaries for Fibrochondrogenesis 2

OMIM® : 57 Fibrochondrogenesis is a severe skeletal dysplasia characterized by a flat midface, short long bones, short ribs with broad metaphyses, and vertebral bodies that show distinctive hypoplastic posterior ends and rounded anterior ends, giving the vertebral bodies a pinched appearance on lateral radiographic views. The chest is small, causing perinatal respiratory problems which usually, but not always, result in lethality. Affected individuals who survive the neonatal period have high myopia, mild to moderate hearing loss, and severe skeletal dysplasia (summary by Tompson et al., 2012). For a discussion of genetic heterogeneity of fibrochondrogenesis, see FBCG1 (228520). (614524) (Updated 05-Apr-2021)

MalaCards based summary : Fibrochondrogenesis 2, also known as fbcg2, is related to fibrochondrogenesis. An important gene associated with Fibrochondrogenesis 2 is COL11A2 (Collagen Type XI Alpha 2 Chain). Affiliated tissues include bone, and related phenotypes are short nose and anteverted nares

Disease Ontology : 12 A fibrochondrogenesis that has material basis in homozygous or heterozygous mutation in the COL11A2 gene on chromosome 6p21.3.

UniProtKB/Swiss-Prot : 72 Fibrochondrogenesis 2: A severe skeletal dysplasia characterized by a flat midface, short long bones, short ribs with broad metaphyses, and vertebral bodies that show distinctive hypoplastic posterior ends and rounded anterior ends, giving the vertebral bodies a pinched appearance on lateral radiographic views. The chest is small, causing perinatal respiratory problems which usually, but not always, result in lethality. Affected individuals who survive the neonatal period have high myopia, mild to moderate hearing loss, and severe skeletal dysplasia.

Related Diseases for Fibrochondrogenesis 2

Diseases in the Fibrochondrogenesis family:

Fibrochondrogenesis 1 Fibrochondrogenesis 2

Diseases related to Fibrochondrogenesis 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 fibrochondrogenesis 11.3

Symptoms & Phenotypes for Fibrochondrogenesis 2

Human phenotypes related to Fibrochondrogenesis 2:

31 (show all 15)
# Description HPO Frequency HPO Source Accession
1 short nose 31 HP:0003196
2 anteverted nares 31 HP:0000463
3 micrognathia 31 HP:0000347
4 platyspondyly 31 HP:0000926
5 malar flattening 31 HP:0000272
6 midface retrusion 31 HP:0011800
7 hypoplastic pubic bone 31 HP:0003173
8 hypoplastic ischia 31 HP:0003175
9 thoracic hypoplasia 31 HP:0005257
10 protuberant abdomen 31 HP:0001538
11 bell-shaped thorax 31 HP:0001591
12 short ribs 31 HP:0000773
13 hypoplastic ilia 31 HP:0000946
14 metaphyseal widening 31 HP:0003016
15 metaphyseal cupping 31 HP:0003021

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Nose:
anteverted nares
small nose

Skeletal Spine:
platyspondyly
posteriorly narrowed vertebral bodies
delayed ossification of the cervical vertebral bodies (in some patients)

Abdomen External Features:
protuberant abdomen

Chest Ribs Sternum Clavicles And Scapulae:
short ribs
metaphyseal cupping of ribs

Respiratory Lung:
respiratory compromise due to small size of thorax

Head And Neck Face:
micrognathia
midface hypoplasia

Skeletal Pelvis:
hypoplastic ischia
hypoplastic ilia
hypoplastic pubis
delayed ossification of ischia
delayed ossification of pubis

Chest External Features:
bell-shaped thorax
small thorax

Skeletal Limbs:
widened metaphyses
shortening of the long bones

Skeletal Skull:
relatively large skull

Clinical features from OMIM®:

614524 (Updated 05-Apr-2021)

Drugs & Therapeutics for Fibrochondrogenesis 2

Search Clinical Trials , NIH Clinical Center for Fibrochondrogenesis 2

Genetic Tests for Fibrochondrogenesis 2

Genetic tests related to Fibrochondrogenesis 2:

# Genetic test Affiliating Genes
1 Fibrochondrogenesis 2 29 COL11A2

Anatomical Context for Fibrochondrogenesis 2

MalaCards organs/tissues related to Fibrochondrogenesis 2:

40
Bone

Publications for Fibrochondrogenesis 2

Articles related to Fibrochondrogenesis 2:

# Title Authors PMID Year
1
Dominant and recessive forms of fibrochondrogenesis resulting from mutations at a second locus, COL11A2. 57 6
22246659 2012

Variations for Fibrochondrogenesis 2

ClinVar genetic disease variations for Fibrochondrogenesis 2:

6 (show top 50) (show all 150)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 COL11A2 COL11A2, IVS18, 1-BP INS, +3 Insertion Pathogenic 29650 GRCh37:
GRCh38:
2 COL11A2 COL11A2, 9-BP DEL, NT2899 Deletion Pathogenic 29651 GRCh37:
GRCh38:
3 COL11A2 NM_080680.3(COL11A2):c.2083_2086AAGG[1] (p.Glu696fs) Microsatellite Pathogenic 807387 rs1583335192 GRCh37: 6:33144523-33144526
GRCh38: 6:33176746-33176749
4 COL11A2 NM_080680.3(COL11A2):c.1612-10G>C SNV Uncertain significance 227260 rs182657680 GRCh37: 6:33146760-33146760
GRCh38: 6:33178983-33178983
5 COL11A2 NM_080680.3(COL11A2):c.-92A>G SNV Uncertain significance 356413 rs886061319 GRCh37: 6:33160109-33160109
GRCh38: 6:33192332-33192332
6 COL11A2 NM_080680.3(COL11A2):c.*706G>T SNV Uncertain significance 356374 rs548143581 GRCh37: 6:33130749-33130749
GRCh38: 6:33162972-33162972
7 COL11A2 NM_080680.3(COL11A2):c.939G>C (p.Glu313Asp) SNV Uncertain significance 356409 rs886061317 GRCh37: 6:33152769-33152769
GRCh38: 6:33184992-33184992
8 COL11A2 NM_080680.3(COL11A2):c.830C>A (p.Pro277His) SNV Uncertain significance 356410 rs886061318 GRCh37: 6:33153524-33153524
GRCh38: 6:33185747-33185747
9 COL11A2 NM_080680.3(COL11A2):c.*544C>G SNV Uncertain significance 356375 rs199956729 GRCh37: 6:33130911-33130911
GRCh38: 6:33163134-33163134
10 COL11A2 NM_080680.3(COL11A2):c.4951G>A (p.Val1651Ile) SNV Uncertain significance 356381 rs766589324 GRCh37: 6:33132163-33132163
GRCh38: 6:33164386-33164386
11 COL11A2 NM_080680.3(COL11A2):c.*822C>G SNV Uncertain significance 356373 rs536130072 GRCh37: 6:33130633-33130633
GRCh38: 6:33162856-33162856
12 COL11A2 NM_080680.3(COL11A2):c.-226C>T SNV Uncertain significance 356416 rs886061320 GRCh37: 6:33160243-33160243
GRCh38: 6:33192466-33192466
13 COL11A2 NM_080680.3(COL11A2):c.2684G>C (p.Gly895Ala) SNV Uncertain significance 356398 rs555936455 GRCh37: 6:33141177-33141177
GRCh38: 6:33173400-33173400
14 COL11A2 NM_080680.3(COL11A2):c.*536C>T SNV Uncertain significance 356376 rs886061312 GRCh37: 6:33130919-33130919
GRCh38: 6:33163142-33163142
15 COL11A2 NM_080680.3(COL11A2):c.2215-11A>G SNV Uncertain significance 356401 rs557236389 GRCh37: 6:33143857-33143857
GRCh38: 6:33176080-33176080
16 COL11A2 NM_080680.3(COL11A2):c.752A>T (p.Gln251Leu) SNV Uncertain significance 228526 rs201399429 GRCh37: 6:33154450-33154450
GRCh38: 6:33186673-33186673
17 COL11A2 NM_080680.3(COL11A2):c.1818+15G>A SNV Uncertain significance 356405 rs549588854 GRCh37: 6:33146070-33146070
GRCh38: 6:33178293-33178293
18 COL11A2 NM_080680.3(COL11A2):c.2416C>T (p.Arg806Cys) SNV Uncertain significance 356399 rs376355040 GRCh37: 6:33142318-33142318
GRCh38: 6:33174541-33174541
19 COL11A2 NM_080680.3(COL11A2):c.5A>G (p.Glu2Gly) SNV Uncertain significance 356412 rs568840295 GRCh37: 6:33160013-33160013
GRCh38: 6:33192236-33192236
20 COL11A2 NM_080680.3(COL11A2):c.*248C>A SNV Uncertain significance 356378 rs886061314 GRCh37: 6:33131207-33131207
GRCh38: 6:33163430-33163430
21 COL11A2 NM_080680.3(COL11A2):c.453T>C (p.Arg151=) SNV Uncertain significance 356411 rs147115504 GRCh37: 6:33156292-33156292
GRCh38: 6:33188515-33188515
22 COL11A2 NM_080680.3(COL11A2):c.3267G>A (p.Val1089=) SNV Uncertain significance 356394 rs781462105 GRCh37: 6:33139093-33139093
GRCh38: 6:33171316-33171316
23 COL11A2 NM_080680.3(COL11A2):c.3850C>T (p.Arg1284Trp) SNV Uncertain significance 356388 rs886061315 GRCh37: 6:33136734-33136734
GRCh38: 6:33168957-33168957
24 COL11A2 NM_080680.3(COL11A2):c.3092C>T (p.Pro1031Leu) SNV Uncertain significance 356395 rs528009333 GRCh37: 6:33139548-33139548
GRCh38: 6:33171771-33171771
25 COL11A2 NM_080680.3(COL11A2):c.3883G>A (p.Glu1295Lys) SNV Uncertain significance 356387 rs758507327 GRCh37: 6:33136506-33136506
GRCh38: 6:33168729-33168729
26 COL11A2 NM_080680.3(COL11A2):c.2735T>C (p.Val912Ala) SNV Uncertain significance 356397 rs548592690 GRCh37: 6:33141126-33141126
GRCh38: 6:33173349-33173349
27 COL11A2 NM_080680.3(COL11A2):c.1287C>T (p.Gly429=) SNV Uncertain significance 162993 rs549704545 GRCh37: 6:33148107-33148107
GRCh38: 6:33180330-33180330
28 COL11A2 NM_080680.3(COL11A2):c.2182A>T (p.Ile728Phe) SNV Uncertain significance 356402 rs188490457 GRCh37: 6:33144068-33144068
GRCh38: 6:33176291-33176291
29 COL11A2 NM_080680.3(COL11A2):c.2848C>T (p.Pro950Ser) SNV Uncertain significance 356396 rs768902062 GRCh37: 6:33140357-33140357
GRCh38: 6:33172580-33172580
30 COL11A2 NM_080680.3(COL11A2):c.1381G>T (p.Gly461Cys) SNV Uncertain significance 356406 rs764998691 GRCh37: 6:33147561-33147561
GRCh38: 6:33179784-33179784
31 COL11A2 NM_080680.3(COL11A2):c.3370G>A (p.Ala1124Thr) SNV Uncertain significance 356392 rs886061316 GRCh37: 6:33138691-33138691
GRCh38: 6:33170914-33170914
32 COL11A2 NM_080680.3(COL11A2):c.3932A>G (p.Asn1311Ser) SNV Uncertain significance 178812 rs727504460 GRCh37: 6:33136324-33136324
GRCh38: 6:33168547-33168547
33 COL11A2 NM_080680.3(COL11A2):c.2054G>C (p.Gly685Ala) SNV Uncertain significance 356403 rs757431548 GRCh37: 6:33144785-33144785
GRCh38: 6:33177008-33177008
34 COL11A2 NM_080680.3(COL11A2):c.4586C>T (p.Pro1529Leu) SNV Uncertain significance 356384 rs201315111 GRCh37: 6:33133490-33133490
GRCh38: 6:33165713-33165713
35 COL11A2 NM_080680.3(COL11A2):c.*439C>A SNV Uncertain significance 356377 rs886061313 GRCh37: 6:33131016-33131016
GRCh38: 6:33163239-33163239
36 COL11A2 NM_080680.3(COL11A2):c.4040C>A (p.Pro1347Gln) SNV Uncertain significance 162981 rs142890313 GRCh37: 6:33135285-33135285
GRCh38: 6:33167508-33167508
37 COL11A2 NM_080680.3(COL11A2):c.2530-4G>A SNV Uncertain significance 903738 GRCh37: 6:33141707-33141707
GRCh38: 6:33173930-33173930
38 COL11A2 NM_080680.3(COL11A2):c.2254G>A (p.Val752Met) SNV Uncertain significance 561277 rs201076557 GRCh37: 6:33143807-33143807
GRCh38: 6:33176030-33176030
39 COL11A2 NM_080680.3(COL11A2):c.2220G>A (p.Glu740=) SNV Uncertain significance 547218 rs202032297 GRCh37: 6:33143841-33143841
GRCh38: 6:33176064-33176064
40 COL11A2 NM_080680.3(COL11A2):c.1869C>G (p.Pro623=) SNV Uncertain significance 903890 GRCh37: 6:33145912-33145912
GRCh38: 6:33178135-33178135
41 COL11A2 NM_080680.3(COL11A2):c.1697T>G (p.Leu566Arg) SNV Uncertain significance 903951 GRCh37: 6:33146478-33146478
GRCh38: 6:33178701-33178701
42 COL11A2 NM_080680.3(COL11A2):c.799-3C>T SNV Uncertain significance 904086 GRCh37: 6:33153558-33153558
GRCh38: 6:33185781-33185781
43 COL11A2 NM_080680.3(COL11A2):c.222G>A (p.Gln74=) SNV Uncertain significance 904148 GRCh37: 6:33157107-33157107
GRCh38: 6:33189330-33189330
44 COL11A2 NM_080680.3(COL11A2):c.*429G>T SNV Uncertain significance 904203 GRCh37: 6:33131026-33131026
GRCh38: 6:33163249-33163249
45 COL11A2 NM_080680.3(COL11A2):c.5088G>A (p.Thr1696=) SNV Uncertain significance 504742 rs142893093 GRCh37: 6:33131578-33131578
GRCh38: 6:33163801-33163801
46 COL11A2 NM_080680.3(COL11A2):c.4231-4C>G SNV Uncertain significance 904453 GRCh37: 6:33134608-33134608
GRCh38: 6:33166831-33166831
47 COL11A2 NM_080680.3(COL11A2):c.4228A>G (p.Lys1410Glu) SNV Uncertain significance 904454 GRCh37: 6:33134849-33134849
GRCh38: 6:33167072-33167072
48 COL11A2 NM_080680.3(COL11A2):c.*819C>T SNV Uncertain significance 904927 GRCh37: 6:33130636-33130636
GRCh38: 6:33162859-33162859
49 COL11A2 NM_080680.3(COL11A2):c.*788A>C SNV Uncertain significance 904928 GRCh37: 6:33130667-33130667
GRCh38: 6:33162890-33162890
50 COL11A2 NM_080680.3(COL11A2):c.191G>A (p.Arg64Gln) SNV Uncertain significance 904929 GRCh37: 6:33157138-33157138
GRCh38: 6:33189361-33189361

Expression for Fibrochondrogenesis 2

Search GEO for disease gene expression data for Fibrochondrogenesis 2.

Pathways for Fibrochondrogenesis 2

GO Terms for Fibrochondrogenesis 2

Sources for Fibrochondrogenesis 2

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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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