MCID: GTT001
MIFTS: 23

Guttmacher Syndrome

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

Aliases & Classifications for Guttmacher Syndrome

MalaCards integrated aliases for Guttmacher Syndrome:

Name: Guttmacher Syndrome 54 50 24 56 71 13
Preaxial Deficiency, Postaxial Polydactyly and Hypospadias 50 29 69
Autosomal Dominant Preaxial Deficiency, Postaxial Polydactyly, and Hypospadias 50
Preaxial Deficiency-Postaxial Polydactyly-Hypospadias Syndrome 56
Preaxial Deficiency, Postaxial Polydactyly and Hypospadius 24
Gutts 71

Characteristics:

Orphanet epidemiological data:

56
guttmacher syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

54
Inheritance:
autosomal dominant


HPO:

32
guttmacher syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 176305
Orphanet 56 ORPHA2957
MESH via Orphanet 43 C538278
UMLS via Orphanet 70 C1867801
ICD10 via Orphanet 34 Q87.2
MedGen 40 C1867801

Summaries for Guttmacher Syndrome

NIH Rare Diseases : 50 the following summary is from orphanet, a european reference portal for information on rare diseases and orphan drugs.orpha number: 2957disease definitionguttmacher syndrome is an extremely rare syndrome characterized by hypoplastic thumbs and halluces, 5th finger clinobrachydactyly, postaxial polydactyly of the hands, short or uniphalangeal 2nd toes with absent nails and hypospadias.epidemiologyit has been described in a father and his son and daughter.clinical descriptionthe affected patients have normal mental development. except for postaxial polydactyly of the hands and uniphalangeal 2nd toes with absent nails, features are in common with hand-foot-genital syndrome (hfgs, see this term) caused by mutations in the hoxa13 gene.etiologyin all three affected individuals with guttmacher syndrome, two different sequence alterations were identified in hoxa13 gene: a de novo missense mutation and a deletion in the promoter region of the gene, inherited from an unaffected parent, which may contribute to the phenotype in the affected individuals.genetic counselingthe condition is inherited in an autosomal dominant manner.visit the orphanet disease page for more resources. last updated: 1/5/2011

MalaCards based summary : Guttmacher Syndrome, also known as preaxial deficiency, postaxial polydactyly and hypospadias, is related to hypospadias and polydactyly, and has symptoms including glandular hypospadias, postaxial hand polydactyly and short 2nd toe. An important gene associated with Guttmacher Syndrome is HOXA13 (Homeobox A13). Affiliated tissues include bone.

UniProtKB/Swiss-Prot : 71 Guttmacher syndrome: Dominantly inherited combination of distal limb and genital tract abnormalities. It has several features in common with hand-foot- genital syndrome, including hypoplastic first digits and hypospadias. Typical features not seen in hand-foot-genital syndrome include postaxial polydactyly of the hands and uniphalangeal second toes with absent nails.

Description from OMIM: 176305

Related Diseases for Guttmacher Syndrome

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

id Related Disease Score Top Affiliating Genes
1 hypospadias 10.2
2 polydactyly 10.2

Symptoms & Phenotypes for Guttmacher Syndrome

Symptoms via clinical synopsis from OMIM:

54

Limbs:
congenital preaxial hand and foot deficiencies
postaxial polydactyly of hands
short second toes

GU:
glandular hypospadias


Clinical features from OMIM:

176305

Human phenotypes related to Guttmacher Syndrome:

32
id Description HPO Frequency HPO Source Accession
1 glandular hypospadias 32 HP:0000807
2 postaxial hand polydactyly 32 HP:0001162
3 short 2nd toe 32 HP:0001885

Drugs & Therapeutics for Guttmacher Syndrome

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Study of the Natural History and Genotype-Phenotype Correlations of Hereditary Hemorrhagic Telangiectasia Patients Completed NCT00004649
2 Studies of Hereditary Hemorrhagic Telangiectasia Completed NCT00004648

Search NIH Clinical Center for Guttmacher Syndrome

Genetic Tests for Guttmacher Syndrome

Genetic tests related to Guttmacher Syndrome:

id Genetic test Affiliating Genes
1 Preaxial Deficiency, Postaxial Polydactyly and Hypospadias 29
2 Guttmacher Syndrome 24 HOXA13

Anatomical Context for Guttmacher Syndrome

MalaCards organs/tissues related to Guttmacher Syndrome:

39
Bone

Publications for Guttmacher Syndrome

Articles related to Guttmacher Syndrome:

id Title Authors Year
1
A HOXA13 allele with a missense mutation in the homeobox and a dinucleotide deletion in the promoter underlies Guttmacher syndrome. ( 11968094 )
2002

Variations for Guttmacher Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Guttmacher Syndrome:

71
id Symbol AA change Variation ID SNP ID
1 HOXA13 p.Gln371Leu VAR_017775

ClinVar genetic disease variations for Guttmacher Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 HOXA13 HOXA13, GLN50LEU, 2-BP DEL, -79GC deletion Pathogenic

Expression for Guttmacher Syndrome

Search GEO for disease gene expression data for Guttmacher Syndrome.

Pathways for Guttmacher Syndrome

GO Terms for Guttmacher Syndrome

Sources for Guttmacher Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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