MCID: FBR029
MIFTS: 22

Fibrochondrogenesis 1

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

Aliases & Classifications for Fibrochondrogenesis 1

MalaCards integrated aliases for Fibrochondrogenesis 1:

Name: Fibrochondrogenesis 1 57 75 73
Fbcg1 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
all affected individuals have been stillborn or died in the neonatal period


HPO:

32
fibrochondrogenesis 1:
Mortality/Aging stillbirth
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Fibrochondrogenesis 1

OMIM : 57 Fibrochondrogenesis is a severe, autosomal recessive, short-limbed skeletal dysplasia clinically characterized by 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. Radiographically, the long bones are short and have broad metaphyseal ends, giving them a dumb-bell shape. The vertebral bodies are flat and, on lateral view, have a distinctive pinched appearance, with a hypoplastic posterior end and a rounded anterior end. The ribs are typically short and wide and have metaphyseal cupping at both ends (summary by Tompson et al., 2010). (228520)

MalaCards based summary : Fibrochondrogenesis 1, also known as fbcg1, is related to fibrochondrogenesis and fibrochondrogenesis 2, and has symptoms including edema An important gene associated with Fibrochondrogenesis 1 is COL11A1 (Collagen Type XI Alpha 1 Chain). Affiliated tissues include bone and eye, and related phenotypes are malar flattening and low-set ears

UniProtKB/Swiss-Prot : 75 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

Diseases in the Fibrochondrogenesis family:

Fibrochondrogenesis 1 Fibrochondrogenesis 2

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

# Related Disease Score Top Affiliating Genes
1 fibrochondrogenesis 11.0
2 fibrochondrogenesis 2 11.0

Symptoms & Phenotypes for Fibrochondrogenesis 1

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
low-set ears
malformed ears

Head And Neck Face:
frontal bossing
long philtrum
round, flat face

Growth Height:
short stature
rhizomelic dwarfism

Skeletal Spine:
platyspondyly
posterior vertebral hypoplasia
sagittal cleft

Abdomen External Features:
omphalocele
protuberant abdomen

Cardiovascular Heart:
patent foramen ovale

Prenatal Manifestations Delivery:
stillborn

Skeletal Feet:
small feet

Prenatal Manifestations:
hydrops

Head And Neck Head:
large open anterior fontanel
normal head size

Skeletal Skull:
widely patent coronal suture
widely patent sagittal suture

Head And Neck Neck:
short neck

Head And Neck Nose:
anteverted nares
flat nasal bridge
hypoplastic nose

Head And Neck Mouth:
cleft palate
microstomia

Skin Nails Hair Nails:
hypoplastic toenails
hypoplastic fingernails

Skeletal Hands:
camptodactyly
fifth finger clinodactyly
small hands

Skeletal Limbs:
rhizomelic limb shortening
short fibulae
short, broad dumbbell-shaped tubular bones with irregular metaphyses

Chest Ribs Sternum Clavicles And Scapulae:
short, thin ribs
small scapulae
anterior and posterior rib cupping
long, thin clavicles

Skeletal Pelvis:
narrow sacrosciatic notches
broad, hypoplastic ischia
ovoid ilia
irregular, flattened acetabula with medial spikes

Chest External Features:
small chest

Head And Neck Eyes:
protuberant eyes
large corneae

Laboratory Abnormalities:
disorganized growth plate cartilage


Clinical features from OMIM:

228520

Human phenotypes related to Fibrochondrogenesis 1:

32 (show all 46)
# Description HPO Frequency HPO Source Accession
1 malar flattening 32 HP:0000272
2 low-set ears 32 HP:0000369
3 short neck 32 HP:0000470
4 frontal bossing 32 HP:0002007
5 depressed nasal bridge 32 HP:0005280
6 short nose 32 HP:0003196
7 anteverted nares 32 HP:0000463
8 cleft palate 32 HP:0000175
9 long philtrum 32 HP:0000343
10 platyspondyly 32 HP:0000926
11 short palm 32 HP:0004279
12 megalocornea 32 HP:0000485
13 short long bone 32 HP:0003026
14 short foot 32 HP:0001773
15 hydrops fetalis 32 HP:0001789
16 hypoplastic toenails 32 HP:0001800
17 abnormality of the pinna 32 HP:0000377
18 thin ribs 32 HP:0000883
19 rhizomelia 32 HP:0008905
20 clinodactyly of the 5th finger 32 HP:0004209
21 small hand 32 HP:0200055
22 narrow mouth 32 HP:0000160
23 wide anterior fontanel 32 HP:0000260
24 broad long bones 32 HP:0005622
25 proptosis 32 HP:0000520
26 hypoplastic fingernail 32 HP:0001804
27 omphalocele 32 HP:0001539
28 hypoplastic scapulae 32 HP:0000882
29 thoracic hypoplasia 32 HP:0005257
30 hypoplastic ischia 32 HP:0003175
31 fibular hypoplasia 32 HP:0003038
32 camptodactyly 32 HP:0012385
33 patent foramen ovale 32 HP:0001655
34 thin clavicles 32 HP:0006645
35 short ribs 32 HP:0000773
36 anterior rib cupping 32 HP:0000907
37 posterior vertebral hypoplasia 32 HP:0008451
38 dumbbell-shaped long bone 32 HP:0000947
39 protuberant abdomen 32 HP:0001538
40 long clavicles 32 HP:0000890
41 joint contracture of the hand 32 HP:0009473
42 widely patent coronal suture 32 HP:0005442
43 widely patent sagittal suture 32 HP:0005476
44 posterior rib cupping 32 HP:0000922
45 broad ischia 32 HP:0100865
46 narrow greater sacrosciatic notches 32 HP:0003375

UMLS symptoms related to Fibrochondrogenesis 1:


edema

Drugs & Therapeutics for Fibrochondrogenesis 1

Search Clinical Trials , NIH Clinical Center for Fibrochondrogenesis 1

Genetic Tests for Fibrochondrogenesis 1

Anatomical Context for Fibrochondrogenesis 1

MalaCards organs/tissues related to Fibrochondrogenesis 1:

41
Bone, Eye

Publications for Fibrochondrogenesis 1

Variations for Fibrochondrogenesis 1

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

75
# Symbol AA change Variation ID SNP ID
1 COL11A1 p.Gly796Arg VAR_065904
2 COL11A1 p.Gly1042Arg VAR_065905

ClinVar genetic disease variations for Fibrochondrogenesis 1:

6
(show top 50) (show all 399)
# Gene Variation Type Significance SNP ID Assembly Location
1 COL11A1 NM_001854.3(COL11A1): c.1786dupG (p.Ala596Glyfs) duplication Pathogenic rs730882190 GRCh37 Chromosome 1, 103471629: 103471629
2 COL11A1 NM_001854.3(COL11A1): c.1786dupG (p.Ala596Glyfs) duplication Pathogenic rs730882190 GRCh38 Chromosome 1, 103006073: 103006073
3 COL11A1 NM_080629.2(COL11A1): c.3277G> C (p.Gly1093Arg) single nucleotide variant Pathogenic rs397514455 GRCh37 Chromosome 1, 103412440: 103412440
4 COL11A1 NM_080629.2(COL11A1): c.3277G> C (p.Gly1093Arg) single nucleotide variant Pathogenic rs397514455 GRCh38 Chromosome 1, 102946884: 102946884
5 COL11A1 NM_080629.2(COL11A1): c.2386G> C (p.Gly796Arg) single nucleotide variant Pathogenic rs387906611 GRCh37 Chromosome 1, 103455118: 103455118
6 COL11A1 NM_080629.2(COL11A1): c.2386G> C (p.Gly796Arg) single nucleotide variant Pathogenic rs387906611 GRCh38 Chromosome 1, 102989562: 102989562
7 COL11A1 COL11A1, GLY1315TER undetermined variant Pathogenic
8 COL11A2 NM_080680.2(COL11A2): c.*4C> T single nucleotide variant Benign/Likely benign rs186720023 GRCh37 Chromosome 6, 33131451: 33131451
9 COL11A2 NM_080680.2(COL11A2): c.*4C> T single nucleotide variant Benign/Likely benign rs186720023 GRCh38 Chromosome 6, 33163674: 33163674
10 COL11A2 NM_080680.2(COL11A2): c.4884G> C (p.Glu1628Asp) single nucleotide variant Benign/Likely benign rs2229790 GRCh37 Chromosome 6, 33132230: 33132230
11 COL11A2 NM_080680.2(COL11A2): c.4884G> C (p.Glu1628Asp) single nucleotide variant Benign/Likely benign rs2229790 GRCh38 Chromosome 6, 33164453: 33164453
12 COL11A2 NM_080680.2(COL11A2): c.4799G> A (p.Arg1600Gln) single nucleotide variant Benign/Likely benign rs1799912 GRCh37 Chromosome 6, 33132693: 33132693
13 COL11A2 NM_080680.2(COL11A2): c.4799G> A (p.Arg1600Gln) single nucleotide variant Benign/Likely benign rs1799912 GRCh38 Chromosome 6, 33164916: 33164916
14 COL11A2 NM_080680.2(COL11A2): c.4683A> G (p.Thr1561=) single nucleotide variant Likely benign rs34055850 GRCh37 Chromosome 6, 33133393: 33133393
15 COL11A2 NM_080680.2(COL11A2): c.4683A> G (p.Thr1561=) single nucleotide variant Likely benign rs34055850 GRCh38 Chromosome 6, 33165616: 33165616
16 COL11A2 NM_080680.2(COL11A2): c.3932A> G (p.Asn1311Ser) single nucleotide variant Uncertain significance rs727504460 GRCh37 Chromosome 6, 33136324: 33136324
17 COL11A2 NM_080680.2(COL11A2): c.3932A> G (p.Asn1311Ser) single nucleotide variant Uncertain significance rs727504460 GRCh38 Chromosome 6, 33168547: 33168547
18 COL11A2 NM_080680.2(COL11A2): c.3616C> T (p.Leu1206=) single nucleotide variant Likely benign rs147576338 GRCh37 Chromosome 6, 33137844: 33137844
19 COL11A2 NM_080680.2(COL11A2): c.3616C> T (p.Leu1206=) single nucleotide variant Likely benign rs147576338 GRCh38 Chromosome 6, 33170067: 33170067
20 COL11A2 NM_080680.2(COL11A2): c.3576C> T (p.Gly1192=) single nucleotide variant Likely benign rs138380958 GRCh37 Chromosome 6, 33138109: 33138109
21 COL11A2 NM_080680.2(COL11A2): c.3576C> T (p.Gly1192=) single nucleotide variant Likely benign rs138380958 GRCh38 Chromosome 6, 33170332: 33170332
22 COL11A2 NM_080680.2(COL11A2): c.2186G> A (p.Arg729Gln) single nucleotide variant Benign/Likely benign rs61730262 GRCh37 Chromosome 6, 33144064: 33144064
23 COL11A2 NM_080680.2(COL11A2): c.2186G> A (p.Arg729Gln) single nucleotide variant Benign/Likely benign rs61730262 GRCh38 Chromosome 6, 33176287: 33176287
24 COL11A2 NM_080680.2(COL11A2): c.1287C> T (p.Gly429=) single nucleotide variant Likely benign rs549704545 GRCh37 Chromosome 6, 33148107: 33148107
25 COL11A2 NM_080680.2(COL11A2): c.1287C> T (p.Gly429=) single nucleotide variant Likely benign rs549704545 GRCh38 Chromosome 6, 33180330: 33180330
26 COL11A2 NM_080680.2(COL11A2): c.353G> C (p.Arg118Pro) single nucleotide variant Likely benign rs41268014 GRCh37 Chromosome 6, 33156845: 33156845
27 COL11A2 NM_080680.2(COL11A2): c.353G> C (p.Arg118Pro) single nucleotide variant Likely benign rs41268014 GRCh38 Chromosome 6, 33189068: 33189068
28 COL11A2 NM_080680.2(COL11A2): c.5000G> A (p.Arg1667His) single nucleotide variant Benign/Likely benign rs146555195 GRCh37 Chromosome 6, 33132114: 33132114
29 COL11A2 NM_080680.2(COL11A2): c.5000G> A (p.Arg1667His) single nucleotide variant Benign/Likely benign rs146555195 GRCh38 Chromosome 6, 33164337: 33164337
30 COL11A2 NM_080680.2(COL11A2): c.4521G> A (p.Gln1507=) single nucleotide variant Benign/Likely benign rs114580597 GRCh37 Chromosome 6, 33133555: 33133555
31 COL11A2 NM_080680.2(COL11A2): c.4521G> A (p.Gln1507=) single nucleotide variant Benign/Likely benign rs114580597 GRCh38 Chromosome 6, 33165778: 33165778
32 COL11A2 NM_080680.2(COL11A2): c.4458T> A (p.Gly1486=) single nucleotide variant Benign/Likely benign rs143186319 GRCh37 Chromosome 6, 33133732: 33133732
33 COL11A2 NM_080680.2(COL11A2): c.4458T> A (p.Gly1486=) single nucleotide variant Benign/Likely benign rs143186319 GRCh38 Chromosome 6, 33165955: 33165955
34 COL11A1 NM_001854.3(COL11A1): c.4140+10A> T single nucleotide variant Benign/Likely benign rs187171126 GRCh37 Chromosome 1, 103364487: 103364487
35 COL11A1 NM_001854.3(COL11A1): c.4140+10A> T single nucleotide variant Benign/Likely benign rs187171126 GRCh38 Chromosome 1, 102898931: 102898931
36 COL11A1 NM_001854.3(COL11A1): c.4032G> A (p.Pro1344=) single nucleotide variant Conflicting interpretations of pathogenicity rs147637674 GRCh37 Chromosome 1, 103379193: 103379193
37 COL11A1 NM_001854.3(COL11A1): c.4032G> A (p.Pro1344=) single nucleotide variant Conflicting interpretations of pathogenicity rs147637674 GRCh38 Chromosome 1, 102913637: 102913637
38 COL11A1 NM_001854.3(COL11A1): c.1792-12_1792-10dupATG duplication Conflicting interpretations of pathogenicity rs746011545 GRCh37 Chromosome 1, 103471457: 103471459
39 COL11A1 NM_001854.3(COL11A1): c.1792-12_1792-10dupATG duplication Conflicting interpretations of pathogenicity rs746011545 GRCh38 Chromosome 1, 103005901: 103005903
40 COL11A1 NM_001854.3(COL11A1): c.1944+11T> C single nucleotide variant Benign rs71664954 GRCh37 Chromosome 1, 103469989: 103469989
41 COL11A1 NM_001854.3(COL11A1): c.1944+11T> C single nucleotide variant Benign rs71664954 GRCh38 Chromosome 1, 103004433: 103004433
42 COL11A2 NM_080680.2(COL11A2): c.2336C> T (p.Pro779Leu) single nucleotide variant Benign/Likely benign rs150877886 GRCh37 Chromosome 6, 33143391: 33143391
43 COL11A2 NM_080680.2(COL11A2): c.2336C> T (p.Pro779Leu) single nucleotide variant Benign/Likely benign rs150877886 GRCh38 Chromosome 6, 33175614: 33175614
44 COL11A1 NM_001854.3(COL11A1): c.2578T> A (p.Phe860Ile) single nucleotide variant Benign/Likely benign rs141548164 GRCh37 Chromosome 1, 103444970: 103444970
45 COL11A1 NM_001854.3(COL11A1): c.2578T> A (p.Phe860Ile) single nucleotide variant Benign/Likely benign rs141548164 GRCh38 Chromosome 1, 102979414: 102979414
46 COL11A2 NM_080680.2(COL11A2): c.3111G> T (p.Pro1037=) single nucleotide variant Benign/Likely benign rs146093235 GRCh37 Chromosome 6, 33139529: 33139529
47 COL11A2 NM_080680.2(COL11A2): c.3111G> T (p.Pro1037=) single nucleotide variant Benign/Likely benign rs146093235 GRCh38 Chromosome 6, 33171752: 33171752
48 COL11A1 NM_080629.2(COL11A1): c.652-7_652-6delTT deletion Benign rs570169691 GRCh37 Chromosome 1, 103496806: 103496807
49 COL11A1 NM_080629.2(COL11A1): c.652-7_652-6delTT deletion Benign rs570169691 GRCh38 Chromosome 1, 103031250: 103031251
50 COL11A1 NM_001854.3(COL11A1): c.652-6dupT duplication Conflicting interpretations of pathogenicity rs749687230 GRCh37 Chromosome 1, 103496806: 103496806

Expression for Fibrochondrogenesis 1

Search GEO for disease gene expression data for Fibrochondrogenesis 1.

Pathways for Fibrochondrogenesis 1

GO Terms for Fibrochondrogenesis 1

Sources for Fibrochondrogenesis 1

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