MCID: SGR001
MIFTS: 32

Sugarman Brachydactyly

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Sugarman Brachydactyly

MalaCards integrated aliases for Sugarman Brachydactyly:

Name: Sugarman Brachydactyly 57 12 20 58 15
Brachydactyly with Major Proximal Phalangeal Shortening 57 12 20
Brachydactyly of the Hands and Feet with Duplication of the First Toes 20
Sugarman-Hager-Kulik Syndrome 58
Orofaciodigital Syndrome 3 70

Characteristics:

OMIM®:

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


HPO:

31
sugarman brachydactyly:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0110979
OMIM® 57 272150
Orphanet 58 ORPHA498602
MedGen 41 C0406726
SNOMED-CT via HPO 68 258211005 43476002
UMLS 70 C0406726

Summaries for Sugarman Brachydactyly

Disease Ontology : 12 A brachydactyly characterized by a nonarticulating great toe set dorsal and proximal to the typical position.

MalaCards based summary : Sugarman Brachydactyly, also known as brachydactyly with major proximal phalangeal shortening, is related to brachydactyly and klippel-feil syndrome 1, and has symptoms including myoclonus An important gene associated with Sugarman Brachydactyly is OFD1 (OFD1 Centriole And Centriolar Satellite Protein), and among its related pathways/superpathways are Signaling by Hedgehog and Signaling by BMP. Related phenotypes are brachydactyly and short proximal phalanx of finger

More information from OMIM: 272150

Related Diseases for Sugarman Brachydactyly

Diseases related to Sugarman Brachydactyly via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 37)
# Related Disease Score Top Affiliating Genes
1 brachydactyly 28.9 OFD1 NOG IHH HOXD13 GDF5 BMPR1B
2 klippel-feil syndrome 1 10.0 GDF5 BMPR1B
3 acromesomelic dysplasia, hunter-thompson type 10.0 GDF5 BMPR1B
4 acromesomelic dysplasia 10.0 GDF5 BMPR1B
5 chondrodysplasia, grebe type 10.0 GDF5 BMPR1B
6 brachydactyly, type a1, c 10.0 NOG GDF5
7 brachydactyly, type b2 10.0 NOG GDF5
8 orofaciodigital syndrome iii 10.0 OFD1 IFT140 CELSR2
9 tarsal-carpal coalition syndrome 10.0 NOG GDF5
10 hypertension and brachydactyly syndrome 10.0 IFT140 HOXD13
11 short-rib thoracic dysplasia 6 with or without polydactyly 10.0 OFD1 IFT140
12 brachydactyly, type c 9.9 GDF5 BMPR1B
13 juvenile polyposis syndrome 9.9 NOG BMPR1B
14 fibrodysplasia ossificans progressiva 9.9 NOG BMPR1B
15 ankylosis 9.9 NOG GDF5
16 cranioectodermal dysplasia 9.8 OFD1 IFT140
17 acrocapitofemoral dysplasia 9.8 IHH GDF5
18 cartilage disease 9.8 IHH GDF5
19 synostoses, tarsal, carpal, and digital 9.8 NOG GDF5 BMPR1B
20 exostosis 9.8 IHH GDF5
21 polydactyly 9.7 OFD1 IFT140 HOXD13
22 multiple synostoses syndrome 9.7 NOG GDF5 BMPR1B
23 ellis-van creveld syndrome 9.7 OFD1 IHH IFT140
24 chromosomal duplication syndrome 9.7 NOG HOXD13
25 orofacial cleft 9.6 OFD1 NOG IHH
26 brachydactyly, type b1 9.6 NOG IHH GDF5
27 brachydactyly, type a4 9.5 IHH HOXD13 GDF5
28 cleft palate, isolated 9.5 OFD1 NOG IHH
29 du pan syndrome 9.3 NOG IHH GDF5 BMPR1B
30 proximal symphalangism 9.3 NOG IHH GDF5 BMPR1B
31 brachydactyly, type a2 9.3 NOG IHH GDF5 BMPR1B
32 bone development disease 9.2 NOG IHH HOXD13 GDF5
33 synostosis 9.2 NOG IHH HOXD13 GDF5
34 dysostosis 9.2 NOG IHH HOXD13 GDF5
35 brachydactyly, type a1 9.0 NOG IHH HOXD13 GDF5 BMPR1B
36 brachydactyly, type a1, b 9.0 NOG IHH HOXD13 GDF5 BMPR1B
37 chromosome 2q35 duplication syndrome 8.8 OFD1 NOG IHH HOXD13 GDF5 BMPR1B

Graphical network of the top 20 diseases related to Sugarman Brachydactyly:



Diseases related to Sugarman Brachydactyly

Symptoms & Phenotypes for Sugarman Brachydactyly

Human phenotypes related to Sugarman Brachydactyly:

31
# Description HPO Frequency HPO Source Accession
1 brachydactyly 31 HP:0001156
2 short proximal phalanx of finger 31 HP:0010241
3 proximal placement of hallux 31 HP:0011926
4 double first metacarpals 31 HP:0005894
5 symphalangism affecting the proximal phalanges of the hand 31 HP:0009857

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Limbs:
brachydactyly
major shortening in proximal phalanges
no proximal interphalangeal joint motion (symphalangism)
nonarticulating great toe
great toe set dorsal and proximal to the usual position

Radiology:
double first metacarpals

Clinical features from OMIM®:

272150 (Updated 05-Apr-2021)

UMLS symptoms related to Sugarman Brachydactyly:


myoclonus

MGI Mouse Phenotypes related to Sugarman Brachydactyly:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.87 BMPR1B GDF5 HOXD13 IFT140 IHH NOG
2 growth/size/body region MP:0005378 9.86 BMPR1B CELSR2 GDF5 HOXD13 IFT140 IHH
3 craniofacial MP:0005382 9.8 BMPR1B IFT140 IHH NOG OFD1
4 digestive/alimentary MP:0005381 9.77 HOXD13 IFT140 IHH NOG OFD1
5 limbs/digits/tail MP:0005371 9.7 BMPR1B GDF5 HOXD13 IFT140 IHH NOG
6 mortality/aging MP:0010768 9.5 BMPR1B GDF5 HOXD13 IFT140 IHH NOG
7 skeleton MP:0005390 9.17 BMPR1B GDF5 HOXD13 IFT140 IHH NOG

Drugs & Therapeutics for Sugarman Brachydactyly

Search Clinical Trials , NIH Clinical Center for Sugarman Brachydactyly

Genetic Tests for Sugarman Brachydactyly

Anatomical Context for Sugarman Brachydactyly

Publications for Sugarman Brachydactyly

Articles related to Sugarman Brachydactyly:

# Title Authors PMID Year
1
Brachydactyly with major involvement of proximal phalanges. 57
7083610 1982
2
A new syndrome of brachydactyly of the hands and feet with duplication of the first toes. 61
4469972 1974

Variations for Sugarman Brachydactyly

ClinVar genetic disease variations for Sugarman Brachydactyly:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 OFD1 NM_003611.3(OFD1):c.1246del (p.Gln416fs) Deletion Pathogenic 266104 rs886039813 GRCh37: X:13774719-13774719
GRCh38: X:13756600-13756600
2 CELSR2 NM_001408.3(CELSR2):c.8235_8246dup (p.Glu2749_Glu2752dup) Duplication Likely pathogenic 266080 rs773722162 GRCh37: 1:109815537-109815538
GRCh38: 1:109272915-109272916
3 IFT140 NM_014714.4(IFT140):c.3943_3948GCCAAG[2] (p.1315_1316AK[2]) Microsatellite Likely pathogenic 266103 rs746697405 GRCh37: 16:1569962-1569967
GRCh38: 16:1519961-1519966

Expression for Sugarman Brachydactyly

Search GEO for disease gene expression data for Sugarman Brachydactyly.

Pathways for Sugarman Brachydactyly

Pathways related to Sugarman Brachydactyly according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.87 OFD1 IHH IFT140
2
Show member pathways
11.11 NOG BMPR1B
3 10.77 NOG GDF5 BMPR1B
4 10.64 NOG GDF5

GO Terms for Sugarman Brachydactyly

Biological processes related to Sugarman Brachydactyly according to GeneCards Suite gene sharing:

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.88 NOG IHH HOXD13 CELSR2
2 positive regulation of transcription by RNA polymerase II GO:0045944 9.88 NOG IHH HOXD13 BMPR1B
3 cilium assembly GO:0060271 9.65 OFD1 IFT140 CELSR2
4 positive regulation of epithelial cell proliferation GO:0050679 9.57 NOG IHH
5 camera-type eye development GO:0043010 9.56 IHH BMPR1B
6 skeletal system development GO:0001501 9.56 NOG IHH HOXD13 BMPR1B
7 response to mechanical stimulus GO:0009612 9.55 IHH GDF5
8 negative regulation of cell differentiation GO:0045596 9.54 NOG IHH
9 BMP signaling pathway GO:0030509 9.54 NOG GDF5 BMPR1B
10 embryonic limb morphogenesis GO:0030326 9.52 HOXD13 GDF5
11 dorsal/ventral pattern formation GO:0009953 9.51 NOG BMPR1B
12 pattern specification process GO:0007389 9.5 NOG IHH HOXD13
13 cellular response to BMP stimulus GO:0071773 9.49 NOG BMPR1B
14 positive regulation of chondrocyte differentiation GO:0032332 9.46 GDF5 BMPR1B
15 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.43 GDF5 BMPR1B
16 somite development GO:0061053 9.4 NOG IHH
17 limb morphogenesis GO:0035108 9.33 IFT140 HOXD13 BMPR1B
18 cartilage development GO:0051216 9.26 NOG IHH GDF5 BMPR1B
19 embryonic digit morphogenesis GO:0042733 8.92 NOG IHH IFT140 HOXD13

Sources for Sugarman Brachydactyly

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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