DUPANS
MCID: DPN005
MIFTS: 48

Du Pan Syndrome (DUPANS)

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

Aliases & Classifications for Du Pan Syndrome

MalaCards integrated aliases for Du Pan Syndrome:

Name: Du Pan Syndrome 56 12 52 58 73 13
Fibular Hypoplasia and Complex Brachydactyly 56 12 52 73 36 29 6 43 15 39
Fibular Aplasia-Complex Brachydactyly Syndrome 58
Dupans 56
Dps 73

Characteristics:

Orphanet epidemiological data:

58
fibular aplasia-complex brachydactyly syndrome
Inheritance: Autosomal recessive;

OMIM:

56
Inheritance:
autosomal recessive

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


HPO:

31
du pan syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0050790
OMIM 56 228900
KEGG 36 H00467
MeSH 43 C537931
ICD10 via Orphanet 33 Q73.8
UMLS via Orphanet 72 C1856738
Orphanet 58 ORPHA2639
MedGen 41 C1856738

Summaries for Du Pan Syndrome

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2639 Definition A rare syndrome 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 : Du Pan Syndrome, also known as fibular hypoplasia and complex brachydactyly, is related to acromesomelic dysplasia and brachydactyly. An important gene associated with Du Pan Syndrome is GDF5 (Growth Differentiation Factor 5), and among its related pathways/superpathways are TGF-beta signaling pathway and Mesenchymal Stem Cells and Lineage-specific Markers. Affiliated tissues include bone, and related phenotypes are abnormality of the ulna and short stature

Disease Ontology : 12 A bone development disease that is characterised by severe reduction or absence of the fibula and complex brachydactyly.

OMIM : 56 Du Pan syndrome (DUPANS) is a rare acromesomelic dysplasia characterized by normal head and trunk, hypoplastic/dysplastic or absent fibulae, and severe hypoplastic/dysplastic hand/feet abnormalities. Mental development is normal (summary by Szczaluba et al., 2005). (228900)

KEGG : 36 Fibular hypoplasia and complex brachydactyly (DuPan syndrome), inherited as an autosomal recessive trait, is characterized by fibula aplasia and severe limb shortening. Affected individuals were reported to be homozygous for a GDF5 missense mutation.

UniProtKB/Swiss-Prot : 73 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.

Related Diseases for Du Pan Syndrome

Diseases related to Du Pan Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 308)
# Related Disease Score Top Affiliating Genes
1 acromesomelic dysplasia 30.6 GDF5 BMPR1B
2 brachydactyly 29.7 NOG IHH GDF5 BMPR1B
3 brachydactyly, type a2 28.9 ZP2 PAEP NOG IHH GDF5 BMPR1B
4 autoimmune disease 10.4
5 graft-versus-host disease 10.4
6 klippel-feil syndrome 1 10.4 GDF5 BMPR1B
7 mitral valve insufficiency 10.4
8 acromesomelic dysplasia, hunter-thompson type 10.4 GDF5 BMPR1B
9 brachydactyly, type a1, c 10.3 NOG GDF5
10 chondrodysplasia, grebe type 10.3 GDF5 BMPR1B
11 brachydactyly, type b2 10.3 NOG GDF5
12 fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly 10.3 LMX1B GDF5
13 tarsal-carpal coalition syndrome 10.3 NOG GDF5
14 pancreatic cancer 10.3
15 hepatitis b 10.3
16 acute graft versus host disease 10.3
17 microphthalmia, isolated 4 10.3 PAEP GDF5
18 celiac disease 1 10.3
19 diabetes mellitus, type i 10.3
20 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.2
21 juvenile rheumatoid arthritis 10.2
22 melioidosis 10.2
23 hepatosplenic t-cell lymphoma 10.2
24 brachydactyly, type c 10.2 GDF5 BMPR1B
25 beryllium disease 10.2
26 chronic beryllium disease 10.2
27 systemic lupus erythematosus 10.2
28 polykaryocytosis inducer 10.2
29 retinoblastoma 10.2
30 asthma 10.2
31 allergic hypersensitivity disease 10.2
32 familial retinoblastoma 10.2
33 synostoses, tarsal, carpal, and digital 10.2 NOG GDF5 BMPR1B
34 rheumatoid arthritis 10.2
35 proteasome-associated autoinflammatory syndrome 1 10.2
36 berylliosis 10.2
37 tricuspid valve insufficiency 10.2
38 rhinitis 10.2
39 liver cirrhosis 10.2
40 obstructive jaundice 10.2
41 cholecystitis 10.2
42 gallbladder cancer 10.2
43 pancreatic ductal adenocarcinoma 10.2
44 xanthogranulomatous cholecystitis 10.2
45 dermatitis herpetiformis, familial 10.1
46 allergic rhinitis 10.1
47 dermatitis 10.1
48 lymphopenia 10.1
49 dermatitis herpetiformis 10.1
50 lupus erythematosus 10.1

Graphical network of the top 20 diseases related to Du Pan Syndrome:



Diseases related to Du Pan Syndrome

Symptoms & Phenotypes for Du Pan Syndrome

Human phenotypes related to Du Pan Syndrome:

58 31 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the ulna 58 31 hallmark (90%) Very frequent (99-80%) HP:0002997
2 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
3 abnormal thumb morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0001172
4 abnormality of the hip bone 58 31 hallmark (90%) Very frequent (99-80%) HP:0003272
5 brachydactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001156
6 bilateral single transverse palmar creases 58 31 hallmark (90%) Very frequent (99-80%) HP:0007598
7 abnormality of tibia morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0002992
8 abnormality of epiphysis morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0005930
9 micromelia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002983
10 narrow nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000446
11 limitation of joint mobility 58 31 hallmark (90%) Very frequent (99-80%) HP:0001376
12 synostosis of carpal bones 58 31 hallmark (90%) Very frequent (99-80%) HP:0005048
13 tarsal synostosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0008368
14 abnormality of the radius 58 31 hallmark (90%) Very frequent (99-80%) HP:0002818
15 aplasia/hypoplasia of the fibula 58 31 hallmark (90%) Very frequent (99-80%) HP:0006492
16 fibular aplasia 31 hallmark (90%) HP:0002990
17 patellar dislocation 31 frequent (33%) HP:0002999
18 absent toe 31 frequent (33%) HP:0010760
19 short metacarpal 31 frequent (33%) HP:0010049
20 deviation of finger 31 frequent (33%) HP:0004097
21 rhizomelia 31 frequent (33%) HP:0008905
22 short phalanx of finger 31 frequent (33%) HP:0009803
23 small nail 31 frequent (33%) HP:0001792
24 short metatarsal 31 frequent (33%) HP:0010743
25 talipes equinovalgus 31 frequent (33%) HP:0001772
26 malaligned carpal bone 31 frequent (33%) HP:0006092
27 deformed tarsal bones 31 frequent (33%) HP:0008119
28 aplastic/hypoplastic toenail 31 HP:0010624
29 fibular hypoplasia 31 HP:0003038

Symptoms via clinical synopsis from OMIM:

56
Skeletal Feet:
talipes equinovalgus
deformed tarsal bones
ball-like toes
short metatarsals (especially first metatarsal)
absent-rudimentary phalanges

Skeletal Limbs:
absent fibulae
displaced patella

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

Skin Nails Hair Nails:
hypoplastic-absent toenails

Clinical features from OMIM:

228900

MGI Mouse Phenotypes related to Du Pan Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 10.14 BMPR1B CYP26A1 CYP26B1 DEAF1 FGF8 GDF5
2 cellular MP:0005384 10.11 BMPR1B COL10A1 CYP26A1 CYP26B1 FGF8 IHH
3 craniofacial MP:0005382 10.09 BMPR1B COL10A1 CYP26A1 CYP26B1 FGF8 IHH
4 limbs/digits/tail MP:0005371 10.02 BMPR1B COL10A1 CYP26A1 CYP26B1 FGF8 GDF5
5 mortality/aging MP:0010768 10 BMPR1B COL10A1 CYP26A1 CYP26B1 DEAF1 FGF8
6 endocrine/exocrine gland MP:0005379 9.91 BMPR1B COL10A1 CYP26B1 FGF8 IHH NOG
7 nervous system MP:0003631 9.76 BMPR1B COL10A1 CYP26A1 DEAF1 FGF8 IHH
8 reproductive system MP:0005389 9.5 BMPR1B CYP26A1 CYP26B1 FGF8 GDF5 NOG
9 skeleton MP:0005390 9.32 BMPR1B COL10A1 CYP26A1 CYP26B1 DEAF1 FGF8

Drugs & Therapeutics for Du Pan Syndrome

Search Clinical Trials , NIH Clinical Center for Du Pan Syndrome

Cochrane evidence based reviews: fibular hypoplasia and complex brachydactyly

Genetic Tests for Du Pan Syndrome

Genetic tests related to Du Pan Syndrome:

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

Anatomical Context for Du Pan Syndrome

MalaCards organs/tissues related to Du Pan Syndrome:

40
Bone

Publications for Du Pan Syndrome

Articles related to Du Pan Syndrome:

(show all 11)
# Title Authors PMID Year
1
Du Pan syndrome phenotype caused by heterozygous pathogenic mutations in CDMP1 gene. 61 56 6
16222676 2005
2
Mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene in a kindred affected with fibular hypoplasia and complex brachydactyly (DuPan syndrome). 61 6 56
12121354 2002
3
Compound heterozygosity for GDF5 in Du Pan type chondrodysplasia. 56 6
18629880 2008
4
Fibular hypoplasia and complex brachydactyly (Du Pan syndrome) in an inbred Pakistani kindred. 61 56
2363425 1990
5
A mutation in the receptor binding site of GDF5 causes Mohr-Wriedt brachydactyly type A2. 6
16014698 2006
6
Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2. 6
16127465 2005
7
New type of autosomal recessive short-limb dwarfism with absent fibulae, exceptionally short digits, and normal intelligence. 56
2624264 1989
8
Characterization of an acromesomelic dysplasia, Grebe type case: novel mutation affecting the recognition motif at the processing site of GDF5. 61
26275437 2016
9
Novel indel Mutation in the GDF5 Gene Is Associated with Brachydactyly Type C in a Four-Generation Turkish Family. 61
24715855 2014
10
Distinctive tomographic features of atlantoaxial dislocation in a boy with acromesomelic dysplasia du Pan syndrome. 61
19449465 2009
11
The surgical management of the upper extremity anomalies associated with Du Pan syndrome. 61
9571482 1998

Variations for Du Pan Syndrome

ClinVar genetic disease variations for Du Pan Syndrome:

6 (show all 46) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 BMPR1B NM_001203.3(BMPR1B):c.640C>A (p.Arg214Ser)SNV Pathogenic 446284 rs1553941890 4:96051067-96051067 4:95129916-95129916
2 GDF5 NM_000557.5(GDF5):c.1322T>C (p.Leu441Pro)SNV Pathogenic 8381 rs28936683 20:34021891-34021891 20:35434093-35434093
3 GDF5 GDF5, 3-BP DEL, 1309TTG, SER439THR, AND HIS440LEUdeletion Pathogenic 8387
4 GDF5 NM_000557.5(GDF5):c.1133G>A (p.Arg378Gln)SNV Pathogenic 8393 rs121909350 20:34022080-34022080 20:35434282-35434282
5 GDF5 NM_000557.5(GDF5):c.1306C>A (p.Pro436Thr)SNV Pathogenic 8394 rs121909351 20:34021907-34021907 20:35434109-35434109
6 GDF5 NM_000557.5(GDF5):c.1104C>T (p.Thr368=)SNV Conflicting interpretations of pathogenicity 338317 rs748907807 20:34022109-34022109 20:35434311-35434311
7 GDF5 NM_000557.5(GDF5):c.855C>T (p.Gly285=)SNV Conflicting interpretations of pathogenicity 338320 rs149593773 20:34022358-34022358 20:35434560-35434560
8 GDF5 NM_000557.5(GDF5):c.631+6G>ASNV Conflicting interpretations of pathogenicity 895609 20:34025072-34025072 20:35437292-35437292
9 GDF5 NM_000557.5(GDF5):c.-134C>GSNV Conflicting interpretations of pathogenicity 896024 20:34025842-34025842 20:35438062-35438062
10 GDF5 NM_000557.5(GDF5):c.*259G>CSNV Conflicting interpretations of pathogenicity 895466 20:34021448-34021448 20:35433650-35433650
11 GDF5 NM_000557.5(GDF5):c.206C>G (p.Ala69Gly)SNV Conflicting interpretations of pathogenicity 895673 20:34025503-34025503 20:35437723-35437723
12 GDF5 NM_000557.5(GDF5):c.168C>A (p.Asn56Lys)SNV Conflicting interpretations of pathogenicity 338323 rs199666386 20:34025541-34025541 20:35437761-35437761
13 GDF5 NM_000557.5(GDF5):c.*166G>ASNV Uncertain significance 338315 rs569761315 20:34021541-34021541 20:35433743-35433743
14 GDF5 NM_000557.5(GDF5):c.182G>A (p.Gly61Glu)SNV Uncertain significance 897084 20:34025527-34025527 20:35437747-35437747
15 GDF5 NM_000557.5(GDF5):c.57G>T (p.Leu19=)SNV Uncertain significance 897561 20:34025652-34025652 20:35437872-35437872
16 GDF5 NM_000557.5(GDF5):c.-97T>CSNV Uncertain significance 895743 20:34025805-34025805 20:35438025-35438025
17 GDF5 NM_000557.5(GDF5):c.1374C>G (p.Pro458=)SNV Uncertain significance 896867 20:34021839-34021839 20:35434041-35434041
18 GDF5 NM_000557.5(GDF5):c.1067A>G (p.Asn356Ser)SNV Uncertain significance 895535 20:34022146-34022146 20:35434348-35434348
19 GDF5 NM_000557.5(GDF5):c.506C>A (p.Pro169His)SNV Uncertain significance 895610 20:34025203-34025203 20:35437423-35437423
20 GDF5 NM_000557.5(GDF5):c.483G>A (p.Pro161=)SNV Uncertain significance 897014 20:34025226-34025226 20:35437446-35437446
21 GDF5 NM_000557.5(GDF5):c.226G>T (p.Ala76Ser)SNV Uncertain significance 895672 20:34025483-34025483 20:35437703-35437703
22 GDF5 NM_000557.5(GDF5):c.-236G>ASNV Uncertain significance 898778 20:34025944-34025944 20:35438164-35438164
23 GDF5 NM_000557.5(GDF5):c.25T>C (p.Phe9Leu)SNV Uncertain significance 595155 rs373973964 20:34025684-34025684 20:35437904-35437904
24 GDF5 NM_000557.5(GDF5):c.-30C>ASNV Uncertain significance 338324 rs375024998 20:34025738-34025738 20:35437958-35437958
25 GDF5 NM_000557.5(GDF5):c.-220C>TSNV Uncertain significance 338327 rs886056643 20:34025928-34025928 20:35438148-35438148
26 ANK2 NM_001148.6(ANK2):c.7951G>C (p.Val2651Leu)SNV Likely benign 430720 rs777477439 4:114277725-114277725 4:113356569-113356569
27 GDF5 NM_000557.5(GDF5):c.*520T>CSNV Benign/Likely benign 338309 rs188252641 20:34021187-34021187 20:35433389-35433389
28 GDF5 NM_000557.5(GDF5):c.1000C>G (p.Arg334Gly)SNV Benign/Likely benign 338318 rs140895068 20:34022213-34022213 20:35434415-35434415
29 GDF5 NM_000557.5(GDF5):c.953G>C (p.Arg318Pro)SNV Benign/Likely benign 338319 rs201590447 20:34022260-34022260 20:35434462-35434462
30 GDF5 NM_000557.5(GDF5):c.462C>A (p.Pro154=)SNV Benign/Likely benign 193119 rs150686636 20:34025247-34025247 20:35437467-35437467
31 GDF5 NM_000557.5(GDF5):c.-39C>TSNV Benign/Likely benign 338325 rs149907722 20:34025747-34025747 20:35437967-35437967
32 GDF5 NM_000557.5(GDF5):c.*389C>TSNV Benign/Likely benign 338311 rs535023630 20:34021318-34021318 20:35433520-35433520
33 GDF5 NM_000557.5(GDF5):c.*387T>CSNV Benign/Likely benign 338312 rs553655935 20:34021320-34021320 20:35433522-35433522
34 GDF5 NM_000557.5(GDF5):c.652A>C (p.Arg218=)SNV Benign/Likely benign 284616 rs116467702 20:34022561-34022561 20:35434763-35434763
35 GDF5 NM_000557.5(GDF5):c.1128G>T (p.Gln376His)SNV Benign 338316 rs138130158 20:34022085-34022085 20:35434287-35434287
36 GDF5 NM_000557.5(GDF5):c.497C>A (p.Pro166His)SNV Benign 338321 rs61754581 20:34025212-34025212 20:35437432-35437432
37 GDF5 NM_000557.5(GDF5):c.*335A>CSNV Benign 338313 rs73611720 20:34021372-34021372 20:35433574-35433574
38 GDF5 NM_000557.5(GDF5):c.*193G>TSNV Benign 338314 rs114832948 20:34021514-34021514 20:35433716-35433716
39 GDF5 NM_000557.5(GDF5):c.349G>T (p.Ala117Ser)SNV Benign 338322 rs151149144 20:34025360-34025360 20:35437580-35437580
40 GDF5 NM_000557.5(GDF5):c.*425T>CSNV Benign 338310 rs56366915 20:34021282-34021282 20:35433484-35433484
41 GDF5 NM_000557.5(GDF5):c.-135G>ASNV Benign 338326 rs73094730 20:34025843-34025843 20:35438063-35438063
42 GDF5 NM_000557.5(GDF5):c.1017= (p.Lys339=)SNV Benign 256713 rs224330 20:34022196-34022196 20:35434398-35434398
43 GDF5 NM_000557.5(GDF5):c.826= (p.Ala276=)SNV Benign 256716 rs224331 20:34022387-34022387 20:35434589-35434589
44 GDF5 NM_000557.5(GDF5):c.-48=SNV Benign 256712 rs143384 20:34025756-34025756 20:35437976-35437976
45 GDF5 NM_000557.5(GDF5):c.-275=SNV Benign 8390 rs143383 20:34025983-34025983 20:35438203-35438203
46 GDF5 NM_000557.5(GDF5):c.*468G>ASNV Benign 895403 20:34021239-34021239 20:35433441-35433441

UniProtKB/Swiss-Prot genetic disease variations for Du Pan Syndrome:

73
# 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 rs121909350
5 GDF5 p.Pro436Thr VAR_054911 rs121909351

Expression for Du Pan Syndrome

Search GEO for disease gene expression data for Du Pan Syndrome.

Pathways for Du Pan Syndrome

Pathways related to Du Pan Syndrome according to KEGG:

36
# Name Kegg Source Accession
1 TGF-beta signaling pathway hsa04350

Pathways related to Du Pan Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.31 NOG GDF5 FGF8
2 11.1 NOG GDF5 BMPR1B
3 10.83 ZP2 BMPR1B
4 10.73 LMX1B FGF8
5 10.48 NOG GDF5 FGF8

GO Terms for Du Pan Syndrome

Cellular components related to Du Pan Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.23 ZP2 PAEP NOG IHH GDF5 FGF8

Biological processes related to Du Pan Syndrome according to GeneCards Suite gene sharing:

(show all 35)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 10.06 TBX2 NOG LMX1B IHH BMPR1B
2 in utero embryonic development GO:0001701 9.84 NOG LMX1B IHH
3 kidney development GO:0001822 9.72 FGF8 CYP26B1 CYP26A1
4 BMP signaling pathway GO:0030509 9.7 NOG GDF5 BMPR1B
5 embryonic skeletal system development GO:0048706 9.67 NOG DEAF1
6 cellular response to BMP stimulus GO:0071773 9.65 NOG BMPR1B
7 cell fate specification GO:0001708 9.65 TBX2 IHH
8 motor neuron axon guidance GO:0008045 9.65 NOG FGF8
9 heart looping GO:0001947 9.65 TBX2 IHH FGF8
10 branching involved in blood vessel morphogenesis GO:0001569 9.64 IHH FGF8
11 outflow tract septum morphogenesis GO:0003148 9.64 TBX2 FGF8
12 retinoic acid metabolic process GO:0042573 9.63 CYP26B1 CYP26A1
13 limb morphogenesis GO:0035108 9.63 FGF8 BMPR1B
14 embryonic digit morphogenesis GO:0042733 9.63 TBX2 NOG IHH
15 sterol metabolic process GO:0016125 9.62 CYP26B1 CYP26A1
16 dopaminergic neuron differentiation GO:0071542 9.62 LMX1B FGF8
17 lung morphogenesis GO:0060425 9.61 NOG FGF8
18 response to vitamin A GO:0033189 9.61 CYP26B1 CYP26A1
19 embryonic heart tube development GO:0035050 9.6 TBX2 FGF8
20 positive regulation of chondrocyte differentiation GO:0032332 9.59 GDF5 BMPR1B
21 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.58 GDF5 BMPR1B
22 endocardial cushion morphogenesis GO:0003203 9.58 TBX2 NOG
23 outflow tract morphogenesis GO:0003151 9.58 TBX2 NOG FGF8
24 somite development GO:0061053 9.57 NOG IHH
25 embryonic camera-type eye morphogenesis GO:0048596 9.56 TBX2 IHH
26 aorta morphogenesis GO:0035909 9.54 TBX2 FGF8
27 negative regulation of retinoic acid receptor signaling pathway GO:0048387 9.51 CYP26B1 CYP26A1
28 multicellular organism development GO:0007275 9.5 TBX2 PAEP NOG LMX1B IHH FGF8
29 vitamin metabolic process GO:0006766 9.49 CYP26B1 CYP26A1
30 skeletal system development GO:0001501 9.46 NOG IHH COL10A1 BMPR1B
31 retinoic acid catabolic process GO:0034653 9.43 CYP26B1 CYP26A1
32 dorsal/ventral pattern formation GO:0009953 9.43 NOG LMX1B BMPR1B
33 ergosterol biosynthetic process GO:0006696 9.37 CYP26B1 CYP26A1
34 neural plate morphogenesis GO:0001839 9.32 NOG FGF8
35 cartilage development GO:0051216 8.92 NOG IHH GDF5 BMPR1B

Molecular functions related to Du Pan Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 retinoic acid binding GO:0001972 9.26 CYP26B1 CYP26A1
2 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen GO:0016709 9.16 CYP26B1 CYP26A1
3 retinoic acid 4-hydroxylase activity GO:0008401 8.96 CYP26B1 CYP26A1
4 C-22 sterol desaturase activity GO:0000249 8.62 CYP26B1 CYP26A1

Sources for Du Pan Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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