SEM1 gene related symptoms and diseases
All the information presented here about the SEM1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,HGNC,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to SEM1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Sensorineural hearing impairment | Very Common - Between 80% and 100% cases |
| Finger syndactyly | Very Common - Between 80% and 100% cases |
| Split hand | Very Common - Between 80% and 100% cases |
| Oligodactyly | Very Common - Between 80% and 100% cases |
| Aniridia | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with SEM1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Absent hand
Rare diseases associated to SEM1 gene
Here you will find a list of rare diseases related to the SEM1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
ISOLATED SPLIT HAND-SPLIT FOOT MALFORMATION
Alternate names
ISOLATED SPLIT HAND-SPLIT FOOT MALFORMATION Is also known as shfm, ectrodactyly, split hand foot malformation
Description
Split hand-split foot malformation (SHFM) refers to a spectrum of genetically and clinically heterogenous terminal limb defect (see this term) characterized by hypoplasia/ absence of central rays of the hands and feet (that can occur in one to all four digits), median clefts of the hands and/ or feet, aplasia and syndactyly, with a wide range of severity ranging from malformed central finger/ toe to a lobster claw-like appearance of the hands and feet. SHFM can be an isolated malformation or can be a feature in various syndromes (ADULT syndrome, EEC syndrome; see these terms). SHFM usually follows an autosomal dominant pattern of inheritance with incomplete penetrance, but autosomal recessive and rarely X-linked inheritance have also been reported.
Most common symptoms of ISOLATED SPLIT HAND-SPLIT FOOT MALFORMATION
- Sensorineural hearing impairment
- Finger syndactyly
- Split hand
- Oligodactyly
- Aniridia
More info about ISOLATED SPLIT HAND-SPLIT FOOT MALFORMATION
SOURCES: ORPHANET
Search interest in SEM1
Potential gene panels for SEM1 gene
qChip Panel
Spain.
By Quantitative Genomic Medicine Laboratories, SL qChip that also includes the following genes: RS1 RUNX2 SALL1 SCN1A BMPR1A SH2D1A SEM1 SHH SHOX SIM1
More info about this panel Spain.
SHFM1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the SEM1 gene.
More info about this panel United States.
Rapid microarray (CGH and SNP) Panel
United States.
By Allele Diagnostics Allele Diagnostics Rapid microarray (CGH and SNP) that also includes the following genes: RPS19 RUNX2 SALL1 SCN1A SCN2A SDHB SDHD BMPR1A SGCE SH2D1A
More info about this panel United States.
High-Resolution Rapid Microarray (CGH and SNP) Panel
United States.
By Allele Diagnostics Allele Diagnostics High-Resolution Rapid Microarray (CGH and SNP) that also includes the following genes: RPS19 RUNX2 SALL1 SCN1A SCN2A SDHB SDHD BMPR1A SGCE SH2D1A
More info about this panel United States.
SPLIT HAND-SPLIT FOOT MALFORMATION Panel
Spain.
By Laboratorio de Genetica Clinica SL SPLIT HAND-SPLIT FOOT MALFORMATION that also includes the following genes: SEM1 WNT10B TP63 DLX5
More info about this panel Spain.
Tempus xO assay Panel
United States.
By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2
More info about this panel United States.
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