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
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
Search interest in PIP5K1C
Potential gene panels for PIP5K1C gene
Congenital Contractures Panel Panel
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 panelCongenital contracture syndrome extended NGS panel Panel
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 panelCongenital contracture syndrome extended Comprehensive panel Panel
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 panelCongenital contracture syndrome extended Deletion / Duplication panel Panel
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 panelLethal congenital contracture syndrome and related disorders Comprehensive Panel Panel
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 panelLethal congenital contracture syndrome and related disorders NGS Panel Panel
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 panelLethal congenital contracture syndrome and related disorders Deletion / Duplication Panel Panel
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 panelCongenital Myasthenic Syndromes and Arthrogryposis Panel Panel
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 panelPIP5K1C Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the PIP5K1C gene.
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