MCID: SGR001
MIFTS: 30

Sugarman Brachydactyly

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Sugarman Brachydactyly

MalaCards integrated aliases for Sugarman Brachydactyly:

Name: Sugarman Brachydactyly 56 12 52 58 15
Brachydactyly with Major Proximal Phalangeal Shortening 56 12 52
Brachydactyly of the Hands and Feet with Duplication of the First Toes 52
Sugarman-Hager-Kulik Syndrome 58
Orofaciodigital Syndrome 3 71

Characteristics:

OMIM:

56
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 56 272150
Orphanet 58 ORPHA498602
MedGen 41 C0406726
SNOMED-CT via HPO 68 258211005 43476002
UMLS 71 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 BMPR1B (Bone Morphogenetic Protein Receptor Type 1B), and among its related pathways/superpathways are Hippo signaling pathway and Mesenchymal Stem Cells and Lineage-specific Markers. Affiliated tissues include bone, and related phenotypes are brachydactyly and short proximal phalanx of finger

More information from OMIM: 272150

Related Diseases for Sugarman Brachydactyly

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:

56
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

UMLS symptoms related to Sugarman Brachydactyly:


myoclonus

MGI Mouse Phenotypes related to Sugarman Brachydactyly:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.8 BMPR1B GDF5 HOXD13 IHH NOG
2 growth/size/body region MP:0005378 9.72 BMPR1B GDF5 HOXD13 IHH NOG
3 endocrine/exocrine gland MP:0005379 9.67 BMPR1B HOXD13 IHH NOG
4 limbs/digits/tail MP:0005371 9.65 BMPR1B GDF5 HOXD13 IHH NOG
5 reproductive system MP:0005389 9.46 BMPR1B GDF5 HOXD13 NOG
6 skeleton MP:0005390 9.35 BMPR1B GDF5 HOXD13 IHH NOG
7 vision/eye MP:0005391 8.92 BMPR1B HOXD13 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

MalaCards organs/tissues related to Sugarman Brachydactyly:

40
Bone

Publications for Sugarman Brachydactyly

Articles related to Sugarman Brachydactyly:

# Title Authors PMID Year
1
Brachydactyly with major involvement of proximal phalanges. 56
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

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 11.52 GDF5 BMPR1B
2 11.23 NOG GDF5
3
Show member pathways
11.01 NOG BMPR1B
4 10.77 NOG GDF5 BMPR1B
5 10.64 NOG GDF5

GO Terms for Sugarman Brachydactyly

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 9.8 NOG IHH HOXD13 BMPR1B
2 osteoblast differentiation GO:0001649 9.58 NOG IHH
3 camera-type eye development GO:0043010 9.57 IHH BMPR1B
4 positive regulation of epithelial cell proliferation GO:0050679 9.56 NOG IHH
5 response to mechanical stimulus GO:0009612 9.55 IHH GDF5
6 negative regulation of cell differentiation GO:0045596 9.54 NOG IHH
7 embryonic limb morphogenesis GO:0030326 9.52 HOXD13 GDF5
8 dorsal/ventral pattern formation GO:0009953 9.51 NOG BMPR1B
9 BMP signaling pathway GO:0030509 9.5 NOG GDF5 BMPR1B
10 cellular response to BMP stimulus GO:0071773 9.48 NOG BMPR1B
11 limb morphogenesis GO:0035108 9.46 HOXD13 BMPR1B
12 positive regulation of chondrocyte differentiation GO:0032332 9.43 GDF5 BMPR1B
13 embryonic digit morphogenesis GO:0042733 9.43 NOG IHH HOXD13
14 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.4 GDF5 BMPR1B
15 somite development GO:0061053 9.37 NOG IHH
16 pattern specification process GO:0007389 9.33 NOG IHH HOXD13
17 skeletal system development GO:0001501 9.26 NOG IHH HOXD13 BMPR1B
18 cartilage development GO:0051216 8.92 NOG IHH GDF5 BMPR1B

Sources for Sugarman Brachydactyly

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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