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  3. IQCE

IQCE gene related symptoms and diseases

All the information presented here about the IQCE gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,OMIM,HGNC, Mendelian Rare Disease Search Engine.

Table of contents:

Top 5 symptoms and clinical features associated to IQCE gene

Symptoms // Phenotype % Cases
Syndactyly Very Common - Between 80% and 100% cases
Polydactyly Very Common - Between 80% and 100% cases
Postaxial polydactyly Very Common - Between 80% and 100% cases
Abnormality of the foot Uncommon - Between 30% and 50% cases
Postaxial hand polydactyly Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with IQCE gene alterations may also develop some of the following symptoms and phenotypes:

  • Not very common - Between 30% and 50% cases

  • Broad thumb
  • Preaxial polydactyly
  • Triphalangeal thumb
  • Cutaneous syndactyly
  • Cubitus varus

Rare diseases associated to IQCE gene

Here you will find a list of rare diseases related to the IQCE. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


POSTAXIAL POLYDACTYLY TYPE A

Alternate names

POSTAXIAL POLYDACTYLY TYPE A Is also known as postaxial polydactyly, type a, papa, polydactyly, postaxial

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 PolydactylyOther forms of postaxial polydactyly type A include PAPA2 (OMIM ) on chromosome 13q21; PAPA3 (OMIM ) on chromosome 19p13; PAPA4 (OMIM ) on chromosome 7q22; PAPA5 (OMIM ) on chromosome 13q13; PAPA6 (OMIM ), caused by mutation in the ZNF141 gene (OMIM ) on chromosome 4p16; PAPA7 (OMIM ), caused by mutation in the IQCE gene (OMIM ) on chromosome 7p22; and PAPA8 (OMIM ), caused by mutation in the GLI1 gene (OMIM ) on chromosome 12q13.

Most common symptoms of POSTAXIAL POLYDACTYLY TYPE A

  • Syndactyly
  • Polydactyly
  • Abnormality of the foot
  • Postaxial polydactyly
  • Postaxial hand polydactyly


More info about POSTAXIAL POLYDACTYLY TYPE A

SOURCES: OMIM ORPHANET

POLYDACTYLY, POSTAXIAL, TYPE A7; PAPA7

Description

PAPA7 is characterized by postaxial polydactyly restricted to the feet, with well-developed nails present on the extra digits and attachment of both the fifth and sixth toes to a broad 2-headed fifth metatarsal (Umair et al., 2017).For a discussion of genetic heterogeneity of postaxial polydactyly, see {174200}.

Most common symptoms of POLYDACTYLY, POSTAXIAL, TYPE A7; PAPA7

  • Syndactyly
  • Polydactyly
  • Postaxial polydactyly
  • Cutaneous syndactyly
  • Cubitus varus


More info about POLYDACTYLY, POSTAXIAL, TYPE A7; PAPA7

SOURCES: OMIM


Potential gene panels for IQCE gene

Autism, IQCE related Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the IQCE gene.

More info about this panel
Germany.

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