Polydactyly, postaxial, type a1

Preferred Label : Polydactyly, postaxial, type a1;

Symbol : PAPA1;

CISMeF acronym : PAPA; PAPA1; PAPB;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Postaxial polydactyly, type a; Polydactyly, postaxial; PAPA;

Included titles and symbols : Postaxial polydactyly, type b; PAPB;

Description : Polydactyly refers to the occurrence of supernumerary digits and is the most frequent of congenital hand and foot deformities. Based on the location of the extra digits, polydactyly can be classified into preaxial, involving the thumb or great toe; postaxial, affecting the fifth digit; and central, involving the 3 central digits. Postaxial polydactyly (PAP) is further subclassified into 2 types: in type A, a well-formed extra digit articulates with the fifth or a sixth metacarpal, whereas in type B, a rudimentary, poorly developed extra digit is present (summary by Umm-e-Kalsoom et al., 2012). - Genetic Heterogeneity of Postaxial Polydactyly Other loci for autosomal dominant postaxial polydactyly type A include;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the GLI-Kruppel family member GLI3 gene (GLI3, 165240.0004);

Prefixed ID : #174200;

Details

Origin ID

174200;

UMLS CUI

C4282400;

Automatic exact mappings (from CISMeF team)
- GLI family zinc finger 3 [ORDO Gene]
- GLI family zinc finger 3 [HGNC gene]
- GLI3 wt Allele [NCIt concept]
- PAPPA wt Allele [NCIt concept]
- Polydactyly, Postaxial, Type A1 [MeSH concept]
- Postaxial Polydactyly, Type A [MeSH concept]
- Postaxial hand polydactyly [HPO term]
- Postaxial polydactyly [HPO term]
- Postaxial polydactyly type A [ORDO Disease]
- Postaxial polydactyly type A [HPO term]
- Postaxial polydactyly type B [ORDO Disease]
- Postaxial polydactyly type B [ICD-11 More detail]
- Postaxial polydactyly type B (disorder) [SNOMED CT concept]
- Pregnancy associated plasma protein A [LOINC component]
- polyaminopropylbiguanide [MeSH Supplementary Concept]
- polydactyly [DO Concept]
- polydactyly, postaxial [MeSH concept]
- polydactyly, postaxial [MeSH Supplementary Concept]
- postaxial polydactyly, type B [MeSH concept]
- pregnancy-associated plasma protein-a [MeSH Descriptor]
- pregnancy-specific beta 1-glycoproteins [MeSH Descriptor]
- proline-serine-threonine phosphatase interacting protein 1 [ORDO Gene]
DO Cross reference
- polydactyly [DO Concept]
Genes related to phenotype
- Gli-kruppel family member 3 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Broad thumb [HPO term]
- Postaxial hand polydactyly [HPO term]
- Preaxial polydactyly [HPO term]
- Syndactyly [HPO term]
- Triphalangeal thumb [HPO term]
ORDO concept(s)
- Postaxial polydactyly type A [ORDO Disease]
- Postaxial polydactyly type B [ORDO Disease]
See also inter- (CISMeF)
- Pyogenic Arthritis, Pyoderma Gangrenosum and Acne [NCIt concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
Validated automatic mappings to NTBT
- Postaxial polydactyly type A [ICD-11 More detail]
- Postaxial polydactyly type A [ORDO Disease]
- Postaxial polydactyly type A (disorder) [SNOMED CT concept]

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