MCID: FBL002
MIFTS: 39

Fibular Hypoplasia and Complex Brachydactyly

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

Aliases & Classifications for Fibular Hypoplasia and Complex Brachydactyly

MalaCards integrated aliases for Fibular Hypoplasia and Complex Brachydactyly:

Name: Fibular Hypoplasia and Complex Brachydactyly 57 12 53 75 37 29 6 15 40 73
Du Pan Syndrome 57 12 53 59 75 13
Fibular Aplasia-Complex Brachydactyly Syndrome 59
Dps 75

Characteristics:

Orphanet epidemiological data:

59
fibular aplasia-complex brachydactyly syndrome
Inheritance: Autosomal recessive;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
allelic to grebe syndrome , brachydactyly type c , and acromesomelic dysplasia, hunter-thompson type
no phenotype in heterozygotes


HPO:

32
fibular hypoplasia and complex brachydactyly:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 228900
Disease Ontology 12 DOID:0050790
Orphanet 59 ORPHA2639
UMLS via Orphanet 74 C1856738
ICD10 via Orphanet 34 Q73.8
MedGen 42 C1856738
KEGG 37 H00467
UMLS 73 C1856738

Summaries for Fibular Hypoplasia and Complex Brachydactyly

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2639Disease definitionFibular aplasia-complex brachydactylysyndrome is characterised by severe reduction or absence of the fibula and complex brachydactyly. Less than 30 cases have been described in the literature so far. The syndrome is inherited in an autosomal recessive manner and is caused by mutations in the cartilage-derived morphogenetic protein-1 gene (WCDMP1).Visit the Orphanet disease page for more resources.

MalaCards based summary : Fibular Hypoplasia and Complex Brachydactyly, also known as du pan syndrome, is related to brachydactyly and hepatitis. An important gene associated with Fibular Hypoplasia and Complex Brachydactyly is GDF5 (Growth Differentiation Factor 5), and among its related pathways/superpathways are TGF-beta signaling pathway and Human Embryonic Stem Cell Pluripotency. Affiliated tissues include bone, and related phenotypes are abnormality of epiphysis morphology and abnormality of the ulna

UniProtKB/Swiss-Prot : 75 Du Pan syndrome: Rare autosomal recessive condition characterized by absence of the fibulae and severe acromesomelic limb shortening with small, non- functional toes. Although milder, the phenotype resembles the autosomal recessive Hunter-Thompson and Grebe types of acromesomelic chondrodysplasia.

Disease Ontology : 12 An autosomal recessive disease that is characterised by severe reduction or absence of the fibula and complex brachydactyly.

Description from OMIM: 228900

Related Diseases for Fibular Hypoplasia and Complex Brachydactyly

Diseases related to Fibular Hypoplasia and Complex Brachydactyly via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 72)
# Related Disease Score Top Affiliating Genes
1 brachydactyly 28.6 BMPR1B GDF5 NOG
2 hepatitis 10.2
3 hepatitis b 10.2
4 asthma 10.0
5 arthritis 10.0
6 systemic lupus erythematosus 9.9
7 rheumatoid arthritis 9.9
8 dermatitis herpetiformis, familial 9.9
9 graft-versus-host disease 9.9
10 diabetes mellitus 9.9
11 dermatitis 9.9
12 dermatitis herpetiformis 9.9
13 lupus erythematosus 9.9
14 melioidosis 9.9
15 pancreatic ductal adenocarcinoma 9.9
16 hepatosplenic t-cell lymphoma 9.9
17 multiple sclerosis 9.9
18 celiac disease 1 9.9
19 leukemia 9.9
20 berylliosis 9.9
21 chronic beryllium disease 9.9
22 hepatocellular carcinoma 9.8
23 cervical cancer 9.8
24 glomerulonephritis 9.8
25 hematopoietic stem cell transplantation 9.8
26 cervicitis 9.8
27 juvenile rheumatoid arthritis 9.8
28 beryllium disease 9.8
29 spondyloarthropathy 1 9.6
30 breast cancer 9.6
31 retinoblastoma 9.6
32 down syndrome 9.6
33 nasopharyngeal carcinoma 9.6
34 allergic rhinitis 9.6
35 dermatofibrosarcoma protuberans 9.6
36 hepatitis c virus 9.6
37 leukemia, acute lymphoblastic 9.6
38 gastric cancer 9.6
39 congestive heart failure 9.6
40 crohn's disease 9.6
41 inflammatory bowel disease 9.6
42 oppositional defiant disorder 9.6
43 atrial fibrillation 9.6
44 sialadenitis 9.6
45 lymphoblastic leukemia 9.6
46 nasopharyngitis 9.6
47 graves' disease 9.6
48 conduct disorder 9.6
49 prostatitis 9.6
50 hepatitis c 9.6

Graphical network of the top 20 diseases related to Fibular Hypoplasia and Complex Brachydactyly:



Diseases related to Fibular Hypoplasia and Complex Brachydactyly

Symptoms & Phenotypes for Fibular Hypoplasia and Complex Brachydactyly

Symptoms via clinical synopsis from OMIM:

57
Skeletal Feet:
talipes equinovalgus
ball-like toes
deformed tarsal bones
short metatarsals (especially first metatarsal)
absent-rudimentary phalanges

Skeletal Hands:
brachydactyly, complex
mild hand shortness
malaligned carpal bone
short metacarpals (especially first metacarpal)
hypoplastic phalanges (especially middle and proximal)

Skeletal Limbs:
absent fibulae
displaced patella

Skin Nails Hair Nails:
hypoplastic-absent toenails


Clinical features from OMIM:

228900

Human phenotypes related to Fibular Hypoplasia and Complex Brachydactyly:

59 32 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of epiphysis morphology 59 32 hallmark (90%) Very frequent (99-80%) HP:0005930
2 abnormality of the ulna 59 32 hallmark (90%) Very frequent (99-80%) HP:0002997
3 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
4 abnormality of the thumb 59 32 hallmark (90%) Very frequent (99-80%) HP:0001172
5 micromelia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002983
6 limitation of joint mobility 59 32 hallmark (90%) Very frequent (99-80%) HP:0001376
7 abnormality of the hip bone 59 32 hallmark (90%) Very frequent (99-80%) HP:0003272
8 brachydactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001156
9 bilateral single transverse palmar creases 59 32 hallmark (90%) Very frequent (99-80%) HP:0007598
10 narrow nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0000446
11 synostosis of carpal bones 59 32 hallmark (90%) Very frequent (99-80%) HP:0005048
12 tarsal synostosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0008368
13 abnormality of tibia morphology 59 32 hallmark (90%) Very frequent (99-80%) HP:0002992
14 abnormality of the radius 59 32 hallmark (90%) Very frequent (99-80%) HP:0002818
15 aplasia/hypoplasia of the fibula 59 32 hallmark (90%) Very frequent (99-80%) HP:0006492
16 rhizomelia 32 frequent (33%) HP:0008905
17 small nail 32 frequent (33%) HP:0001792
18 patellar dislocation 32 frequent (33%) HP:0002999
19 absent toe 32 frequent (33%) HP:0010760
20 short metacarpal 32 frequent (33%) HP:0010049
21 deviation of finger 32 frequent (33%) HP:0004097
22 aplastic/hypoplastic toenail 32 HP:0010624
23 fibular aplasia 32 hallmark (90%) HP:0002990
24 short phalanx of finger 32 frequent (33%) HP:0009803
25 fibular hypoplasia 32 HP:0003038
26 short metatarsal 32 frequent (33%) HP:0010743
27 talipes equinovalgus 32 frequent (33%) HP:0001772
28 malaligned carpal bone 32 frequent (33%) HP:0006092
29 deformed tarsal bones 32 frequent (33%) HP:0008119

MGI Mouse Phenotypes related to Fibular Hypoplasia and Complex Brachydactyly:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 9.33 BMPR1B GDF5 NOG
2 reproductive system MP:0005389 9.13 BMPR1B GDF5 NOG
3 skeleton MP:0005390 8.8 BMPR1B GDF5 NOG

Drugs & Therapeutics for Fibular Hypoplasia and Complex Brachydactyly

Search Clinical Trials , NIH Clinical Center for Fibular Hypoplasia and Complex Brachydactyly

Genetic Tests for Fibular Hypoplasia and Complex Brachydactyly

Genetic tests related to Fibular Hypoplasia and Complex Brachydactyly:

# Genetic test Affiliating Genes
1 Fibular Hypoplasia and Complex Brachydactyly 29 GDF5

Anatomical Context for Fibular Hypoplasia and Complex Brachydactyly

MalaCards organs/tissues related to Fibular Hypoplasia and Complex Brachydactyly:

41
Bone

Publications for Fibular Hypoplasia and Complex Brachydactyly

Articles related to Fibular Hypoplasia and Complex Brachydactyly:

# Title Authors Year
1
Mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene in a kindred affected with fibular hypoplasia and complex brachydactyly (DuPan syndrome). ( 12121354 )
2002
2
Fibular hypoplasia and complex brachydactyly (Du Pan syndrome) in an inbred Pakistani kindred. ( 2363425 )
1990

Variations for Fibular Hypoplasia and Complex Brachydactyly

UniProtKB/Swiss-Prot genetic disease variations for Fibular Hypoplasia and Complex Brachydactyly:

75
# Symbol AA change Variation ID SNP ID
1 GDF5 p.Leu441Pro VAR_017408 rs28936683
2 GDF5 p.Ser439Thr VAR_037980
3 GDF5 p.His440Leu VAR_037981
4 GDF5 p.Arg378Gln VAR_054910
5 GDF5 p.Pro436Thr VAR_054911

ClinVar genetic disease variations for Fibular Hypoplasia and Complex Brachydactyly:

6
(show top 50) (show all 57)
# Gene Variation Type Significance SNP ID Assembly Location
1 GDF5 NM_000557.4(GDF5): c.1322T> C (p.Leu441Pro) single nucleotide variant Pathogenic rs28936683 GRCh37 Chromosome 20, 34021891: 34021891
2 GDF5 NM_000557.4(GDF5): c.1322T> C (p.Leu441Pro) single nucleotide variant Pathogenic rs28936683 GRCh38 Chromosome 20, 35434093: 35434093
3 GDF5 GDF5, 3-BP DEL, 1309TTG, SER439THR, AND HIS440LEU deletion Pathogenic
4 GDF5 NM_000557.4(GDF5): c.1133G> A (p.Arg378Gln) single nucleotide variant Pathogenic rs121909350 GRCh37 Chromosome 20, 34022080: 34022080
5 GDF5 NM_000557.4(GDF5): c.1133G> A (p.Arg378Gln) single nucleotide variant Pathogenic rs121909350 GRCh38 Chromosome 20, 35434282: 35434282
6 GDF5 NM_000557.4(GDF5): c.1306C> A (p.Pro436Thr) single nucleotide variant Pathogenic rs121909351 GRCh37 Chromosome 20, 34021907: 34021907
7 GDF5 NM_000557.4(GDF5): c.1306C> A (p.Pro436Thr) single nucleotide variant Pathogenic rs121909351 GRCh38 Chromosome 20, 35434109: 35434109
8 GDF5 NM_000557.4(GDF5): c.1017A= (p.Lys339=) single nucleotide variant Benign rs224330 GRCh38 Chromosome 20, 35434398: 35434398
9 GDF5 NM_000557.4(GDF5): c.1017A= (p.Lys339=) single nucleotide variant Benign rs224330 GRCh37 Chromosome 20, 34022196: 34022196
10 GDF5 NM_000557.4(GDF5): c.826G= (p.Ala276=) single nucleotide variant Benign rs224331 GRCh38 Chromosome 20, 35434589: 35434589
11 GDF5 NM_000557.4(GDF5): c.826G= (p.Ala276=) single nucleotide variant Benign rs224331 GRCh37 Chromosome 20, 34022387: 34022387
12 GDF5 NM_000557.4(GDF5): c.-48C= single nucleotide variant Benign rs143384 GRCh38 Chromosome 20, 35437976: 35437976
13 GDF5 NM_000557.4(GDF5): c.-48C= single nucleotide variant Benign rs143384 GRCh37 Chromosome 20, 34025756: 34025756
14 GDF5 NM_000557.4(GDF5): c.652A> C (p.Arg218=) single nucleotide variant Benign/Likely benign rs116467702 GRCh37 Chromosome 20, 34022561: 34022561
15 GDF5 NM_000557.4(GDF5): c.652A> C (p.Arg218=) single nucleotide variant Benign/Likely benign rs116467702 GRCh38 Chromosome 20, 35434763: 35434763
16 GDF5 NM_000557.4(GDF5): c.1104C> T (p.Thr368=) single nucleotide variant Uncertain significance rs748907807 GRCh37 Chromosome 20, 34022109: 34022109
17 GDF5 NM_000557.4(GDF5): c.1104C> T (p.Thr368=) single nucleotide variant Uncertain significance rs748907807 GRCh38 Chromosome 20, 35434311: 35434311
18 GDF5 NM_000557.4(GDF5): c.-135G> A single nucleotide variant Likely benign rs73094730 GRCh38 Chromosome 20, 35438063: 35438063
19 GDF5 NM_000557.4(GDF5): c.-135G> A single nucleotide variant Likely benign rs73094730 GRCh37 Chromosome 20, 34025843: 34025843
20 GDF5 NM_000557.4(GDF5): c.-220C> T single nucleotide variant Uncertain significance rs886056643 GRCh38 Chromosome 20, 35438148: 35438148
21 GDF5 NM_000557.4(GDF5): c.-220C> T single nucleotide variant Uncertain significance rs886056643 GRCh37 Chromosome 20, 34025928: 34025928
22 GDF5 NM_000557.4(GDF5): c.*520T> C single nucleotide variant Likely benign rs188252641 GRCh37 Chromosome 20, 34021187: 34021187
23 GDF5 NM_000557.4(GDF5): c.*520T> C single nucleotide variant Likely benign rs188252641 GRCh38 Chromosome 20, 35433389: 35433389
24 GDF5 NM_000557.4(GDF5): c.1000C> G (p.Arg334Gly) single nucleotide variant Likely benign rs140895068 GRCh37 Chromosome 20, 34022213: 34022213
25 GDF5 NM_000557.4(GDF5): c.1000C> G (p.Arg334Gly) single nucleotide variant Likely benign rs140895068 GRCh38 Chromosome 20, 35434415: 35434415
26 GDF5 NM_000557.4(GDF5): c.953G> C (p.Arg318Pro) single nucleotide variant Likely benign rs201590447 GRCh37 Chromosome 20, 34022260: 34022260
27 GDF5 NM_000557.4(GDF5): c.953G> C (p.Arg318Pro) single nucleotide variant Likely benign rs201590447 GRCh38 Chromosome 20, 35434462: 35434462
28 GDF5 NM_000557.4(GDF5): c.855C> T (p.Gly285=) single nucleotide variant Likely benign rs149593773 GRCh38 Chromosome 20, 35434560: 35434560
29 GDF5 NM_000557.4(GDF5): c.855C> T (p.Gly285=) single nucleotide variant Likely benign rs149593773 GRCh37 Chromosome 20, 34022358: 34022358
30 GDF5 NM_000557.4(GDF5): c.*425T> C single nucleotide variant Benign rs56366915 GRCh37 Chromosome 20, 34021282: 34021282
31 GDF5 NM_000557.4(GDF5): c.*425T> C single nucleotide variant Benign rs56366915 GRCh38 Chromosome 20, 35433484: 35433484
32 GDF5 NM_000557.4(GDF5): c.*166G> A single nucleotide variant Uncertain significance rs569761315 GRCh37 Chromosome 20, 34021541: 34021541
33 GDF5 NM_000557.4(GDF5): c.*166G> A single nucleotide variant Uncertain significance rs569761315 GRCh38 Chromosome 20, 35433743: 35433743
34 GDF5 NM_000557.4(GDF5): c.1128G> T (p.Gln376His) single nucleotide variant Likely benign rs138130158 GRCh37 Chromosome 20, 34022085: 34022085
35 GDF5 NM_000557.4(GDF5): c.1128G> T (p.Gln376His) single nucleotide variant Likely benign rs138130158 GRCh38 Chromosome 20, 35434287: 35434287
36 GDF5 NM_000557.4(GDF5): c.497C> A (p.Pro166His) single nucleotide variant Benign rs61754581 GRCh38 Chromosome 20, 35437432: 35437432
37 GDF5 NM_000557.4(GDF5): c.497C> A (p.Pro166His) single nucleotide variant Benign rs61754581 GRCh37 Chromosome 20, 34025212: 34025212
38 GDF5 NM_000557.4(GDF5): c.-30C> A single nucleotide variant Uncertain significance rs375024998 GRCh38 Chromosome 20, 35437958: 35437958
39 GDF5 NM_000557.4(GDF5): c.-30C> A single nucleotide variant Uncertain significance rs375024998 GRCh37 Chromosome 20, 34025738: 34025738
40 GDF5 NM_000557.4(GDF5): c.-39C> T single nucleotide variant Likely benign rs149907722 GRCh38 Chromosome 20, 35437967: 35437967
41 GDF5 NM_000557.4(GDF5): c.-39C> T single nucleotide variant Likely benign rs149907722 GRCh37 Chromosome 20, 34025747: 34025747
42 GDF5 NM_000557.4(GDF5): c.*389C> T single nucleotide variant Likely benign rs535023630 GRCh37 Chromosome 20, 34021318: 34021318
43 GDF5 NM_000557.4(GDF5): c.*389C> T single nucleotide variant Likely benign rs535023630 GRCh38 Chromosome 20, 35433520: 35433520
44 GDF5 NM_000557.4(GDF5): c.*387T> C single nucleotide variant Likely benign rs553655935 GRCh37 Chromosome 20, 34021320: 34021320
45 GDF5 NM_000557.4(GDF5): c.*387T> C single nucleotide variant Likely benign rs553655935 GRCh38 Chromosome 20, 35433522: 35433522
46 GDF5 NM_000557.4(GDF5): c.*335A> C single nucleotide variant Benign rs73611720 GRCh37 Chromosome 20, 34021372: 34021372
47 GDF5 NM_000557.4(GDF5): c.*335A> C single nucleotide variant Benign rs73611720 GRCh38 Chromosome 20, 35433574: 35433574
48 GDF5 NM_000557.4(GDF5): c.*193G> T single nucleotide variant Benign rs114832948 GRCh37 Chromosome 20, 34021514: 34021514
49 GDF5 NM_000557.4(GDF5): c.*193G> T single nucleotide variant Benign rs114832948 GRCh38 Chromosome 20, 35433716: 35433716
50 GDF5 NM_000557.4(GDF5): c.349G> T (p.Ala117Ser) single nucleotide variant Likely benign rs151149144 GRCh38 Chromosome 20, 35437580: 35437580

Expression for Fibular Hypoplasia and Complex Brachydactyly

Search GEO for disease gene expression data for Fibular Hypoplasia and Complex Brachydactyly.

Pathways for Fibular Hypoplasia and Complex Brachydactyly

Pathways related to Fibular Hypoplasia and Complex Brachydactyly according to KEGG:

37
# Name Kegg Source Accession
1 TGF-beta signaling pathway hsa04350

Pathways related to Fibular Hypoplasia and Complex Brachydactyly according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.77 BMPR1B NOG
2 11.44 BMPR1B GDF5
3
Show member pathways
11.01 BMPR1B NOG
4 10.72 BMPR1B GDF5 NOG
5 10.64 GDF5 NOG

GO Terms for Fibular Hypoplasia and Complex Brachydactyly

Biological processes related to Fibular Hypoplasia and Complex Brachydactyly according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 skeletal system development GO:0001501 9.43 BMPR1B NOG
2 dorsal/ventral pattern formation GO:0009953 9.4 BMPR1B NOG
3 chondrocyte differentiation GO:0002062 9.37 BMPR1B GDF5
4 cellular response to BMP stimulus GO:0071773 9.32 BMPR1B NOG
5 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.26 BMPR1B GDF5
6 positive regulation of chondrocyte differentiation GO:0032332 9.16 BMPR1B GDF5
7 BMP signaling pathway GO:0030509 9.13 BMPR1B GDF5 NOG
8 cartilage development GO:0051216 8.8 BMPR1B GDF5 NOG

Sources for Fibular Hypoplasia and Complex Brachydactyly

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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