MCID: SPR030
MIFTS: 6

Spranger Schinzel Myers Syndrome

Categories: Rare diseases

Aliases & Classifications for Spranger Schinzel Myers Syndrome

MalaCards integrated aliases for Spranger Schinzel Myers Syndrome:

Name: Spranger Schinzel Myers Syndrome 54 74
Arthromyodysplasia, Dyscephaly, Sacral Agenesis, and Hypoplastic Digits 54
Cerebroarthrodigital Syndrome 54

Classifications:



External Ids:

UMLS 74 C2931023

Summaries for Spranger Schinzel Myers Syndrome

MalaCards based summary : Spranger Schinzel Myers Syndrome, also known as arthromyodysplasia, dyscephaly, sacral agenesis, and hypoplastic digits, is related to caudal regression sequence. Affiliated tissues include brain.

Related Diseases for Spranger Schinzel Myers Syndrome

Diseases related to Spranger Schinzel Myers Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 caudal regression sequence 10.1

Symptoms & Phenotypes for Spranger Schinzel Myers Syndrome

Drugs & Therapeutics for Spranger Schinzel Myers Syndrome

Search Clinical Trials , NIH Clinical Center for Spranger Schinzel Myers Syndrome

Genetic Tests for Spranger Schinzel Myers Syndrome

Anatomical Context for Spranger Schinzel Myers Syndrome

MalaCards organs/tissues related to Spranger Schinzel Myers Syndrome:

42
Brain

Publications for Spranger Schinzel Myers Syndrome

Articles related to Spranger Schinzel Myers Syndrome:

# Title Authors Year
1
Cerebroarthrodigital syndrome: a newly recognized formal genesis syndrome in three patients with apparent arthromyodysplasia and sacral agenesis, brain malformation and digital hypoplasia. ( 7395897 )
1980

Variations for Spranger Schinzel Myers Syndrome

Expression for Spranger Schinzel Myers Syndrome

Search GEO for disease gene expression data for Spranger Schinzel Myers Syndrome.

Pathways for Spranger Schinzel Myers Syndrome

GO Terms for Spranger Schinzel Myers Syndrome

Sources for Spranger Schinzel Myers Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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