PIP5K1C gene related symptoms and diseases

All the information presented here about the PIP5K1C gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to PIP5K1C gene

Symptoms // Phenotype % Cases
Flexion contracture Very Common - Between 80% and 100% cases
Skeletal muscle atrophy Very Common - Between 80% and 100% cases
Respiratory insufficiency Very Common - Between 80% and 100% cases
Edema Very Common - Between 80% and 100% cases
Arthrogryposis multiplex congenita Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with PIP5K1C gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Pterygium
  • Congenital contracture
  • Multiple joint contractures
  • Neurogenic bladder
  • Multiple pterygia
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Rare diseases associated to PIP5K1C gene

Here you will find a list of rare diseases related to the PIP5K1C. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


LETHAL CONGENITAL CONTRACTURE SYNDROME TYPE 3


Alternate names

LETHAL CONGENITAL CONTRACTURE SYNDROME TYPE 3 Is also known as lccs3, multiple contracture syndrome, israeli bedouin type b

Description

Lethal congenital contracture syndrome type 3 is a rare arthrogryposis syndrome characterized by clinical features identical to Lethal congenital contracture syndrome type 2 (i.e. multiple congenital contactures (typically extended elbows and flexed knees), micrognathia, anterior horn cells degeneration, skeletal muscle atrophy (mainly in the lower limbs), in the absence of hydrops, pterygia or bone fractures), but without bladder enlargement.

Most common symptoms of LETHAL CONGENITAL CONTRACTURE SYNDROME TYPE 3

  • Flexion contracture
  • Skeletal muscle atrophy
  • Respiratory insufficiency
  • Edema
  • Arthrogryposis multiplex congenita


More info about LETHAL CONGENITAL CONTRACTURE SYNDROME TYPE 3

SOURCES: OMIM MESH ORPHANET


Potential gene panels for PIP5K1C gene

Congenital Contractures Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Congenital Contractures Panel that also includes the following genes: SKI SLC18A3 TNNI2 TNNT3 TPM2 TPM3 UBA1 ZMPSTE24 ACTA1 ADGRG6

More info about this panel

Congenital contracture syndrome extended NGS panel Panel

United States.

By Connective Tissue Gene Tests Congenital contracture syndrome extended NGS panel that also includes the following genes: TNNI2 TNNT3 TPM2 VPS33B ZMPSTE24 ADGRG6 NEK9 LGI4 NALCN CHRNA1

More info about this panel

Congenital contracture syndrome extended Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Congenital contracture syndrome extended Comprehensive panel that also includes the following genes: TNNI2 TNNT3 TPM2 VPS33B ZMPSTE24 ADGRG6 NEK9 LGI4 NALCN CHRNA1

More info about this panel

Congenital contracture syndrome extended Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Congenital contracture syndrome extended Deletion / Duplication panel that also includes the following genes: TNNI2 TNNT3 TPM2 VPS33B ZMPSTE24 ADGRG6 NEK9 LGI4 NALCN CHRNA1

More info about this panel

Lethal congenital contracture syndrome and related disorders Comprehensive Panel Panel

United States.

By Connective Tissue Gene Tests Lethal congenital contracture syndrome and related disorders Comprehensive Panel that also includes the following genes: VPS33B ZMPSTE24 ADGRG6 NEK9 LGI4 CHRNA1 CHRND CHRNG VIPAS39 ADCY6

More info about this panel

Lethal congenital contracture syndrome and related disorders NGS Panel Panel

United States.

By Connective Tissue Gene Tests Lethal congenital contracture syndrome and related disorders NGS Panel that also includes the following genes: VPS33B ZMPSTE24 ADGRG6 NEK9 LGI4 CHRNA1 CHRND CHRNG VIPAS39 ADCY6

More info about this panel

Lethal congenital contracture syndrome and related disorders Deletion / Duplication Panel Panel

United States.

By Connective Tissue Gene Tests Lethal congenital contracture syndrome and related disorders Deletion / Duplication Panel that also includes the following genes: VPS33B ZMPSTE24 ADGRG6 NEK9 LGI4 CHRNA1 CHRND CHRNG VIPAS39 ADCY6

More info about this panel

Congenital Myasthenic Syndromes and Arthrogryposis Panel Panel

Germany.

By CeGaT GmbH Congenital Myasthenic Syndromes and Arthrogryposis Panel that also includes the following genes: SCN4A SNAP25 SYT2 TNNI2 TNNT3 TPM2 ADGRG6 SYNE1 FKBP10 NALCN

More info about this panel

PIP5K1C Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the PIP5K1C gene.

More info about this panel


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