MCID: PRX093
MIFTS: 22

Preaxial Deficiency, Postaxial Polydactyly, and Hypospadias

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

Aliases & Classifications for Preaxial Deficiency, Postaxial Polydactyly, and Hypospadias

MalaCards integrated aliases for Preaxial Deficiency, Postaxial Polydactyly, and Hypospadias:

Name: Preaxial Deficiency, Postaxial Polydactyly, and Hypospadias 57
Guttmacher Syndrome 57 53 59 75 37 13 40
Preaxial Deficiency, Postaxial Polydactyly and Hypospadias 53 29 6 73
Autosomal Dominant Preaxial Deficiency, Postaxial Polydactyly, and Hypospadias 53
Preaxial Deficiency-Postaxial Polydactyly-Hypospadias Syndrome 59
Gutts 75

Characteristics:

Orphanet epidemiological data:

59
guttmacher syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
preaxial deficiency, postaxial polydactyly, and hypospadias:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 176305
Orphanet 59 ORPHA2957
UMLS via Orphanet 74 C1867801
ICD10 via Orphanet 34 Q87.2
MESH via Orphanet 45 C538278
MedGen 42 C1867801
KEGG 37 H00859
UMLS 73 C1867801

Summaries for Preaxial Deficiency, Postaxial Polydactyly, and Hypospadias

NIH Rare Diseases : 53 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 novomissense 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.

MalaCards based summary : Preaxial Deficiency, Postaxial Polydactyly, and Hypospadias, also known as guttmacher syndrome, is related to polydactyly and hypospadias. An important gene associated with Preaxial Deficiency, Postaxial Polydactyly, and Hypospadias is HOXA13 (Homeobox A13). Affiliated tissues include bone, and related phenotypes are glandular hypospadias and postaxial hand polydactyly

UniProtKB/Swiss-Prot : 75 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 Preaxial Deficiency, Postaxial Polydactyly, and Hypospadias

Diseases related to Preaxial Deficiency, Postaxial Polydactyly, and Hypospadias via text searches within MalaCards or GeneCards Suite gene sharing:

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

Symptoms & Phenotypes for Preaxial Deficiency, Postaxial Polydactyly, and Hypospadias

Symptoms via clinical synopsis from OMIM:

57
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 Preaxial Deficiency, Postaxial Polydactyly, and Hypospadias:

32
# 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 Preaxial Deficiency, Postaxial Polydactyly, and Hypospadias

Search Clinical Trials , NIH Clinical Center for Preaxial Deficiency, Postaxial Polydactyly, and Hypospadias

Genetic Tests for Preaxial Deficiency, Postaxial Polydactyly, and Hypospadias

Genetic tests related to Preaxial Deficiency, Postaxial Polydactyly, and Hypospadias:

# Genetic test Affiliating Genes
1 Preaxial Deficiency, Postaxial Polydactyly and Hypospadias 29 HOXA13

Anatomical Context for Preaxial Deficiency, Postaxial Polydactyly, and Hypospadias

MalaCards organs/tissues related to Preaxial Deficiency, Postaxial Polydactyly, and Hypospadias:

41
Bone

Publications for Preaxial Deficiency, Postaxial Polydactyly, and Hypospadias

Articles related to Preaxial Deficiency, Postaxial Polydactyly, and Hypospadias:

# 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
2
Autosomal dominant preaxial deficiency, postaxial polydactyly, and hypospadias. ( 8484413 )
1993

Variations for Preaxial Deficiency, Postaxial Polydactyly, and Hypospadias

UniProtKB/Swiss-Prot genetic disease variations for Preaxial Deficiency, Postaxial Polydactyly, and Hypospadias:

75
# Symbol AA change Variation ID SNP ID
1 HOXA13 p.Gln371Leu VAR_017775

ClinVar genetic disease variations for Preaxial Deficiency, Postaxial Polydactyly, and Hypospadias:

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

Expression for Preaxial Deficiency, Postaxial Polydactyly, and Hypospadias

Search GEO for disease gene expression data for Preaxial Deficiency, Postaxial Polydactyly, and Hypospadias.

Pathways for Preaxial Deficiency, Postaxial Polydactyly, and Hypospadias

GO Terms for Preaxial Deficiency, Postaxial Polydactyly, and Hypospadias

Sources for Preaxial Deficiency, Postaxial Polydactyly, and Hypospadias

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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