SLC25A24 gene related symptoms and diseases
All the information presented here about the SLC25A24 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,ORPHANET,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to SLC25A24 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Short stature | Very Common - Between 80% and 100% cases |
| Short distal phalanx of finger | Very Common - Between 80% and 100% cases |
| Prematurely aged appearance | Very Common - Between 80% and 100% cases |
| Reduced subcutaneous adipose tissue | Very Common - Between 80% and 100% cases |
| Redundant skin | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with SLC25A24 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Generalized hirsutism
- Failure to thrive
- Everted lower lip vermilion
- Wide anterior fontanel
- Broad forehead
- Intrauterine growth retardation
- Sparse hair
- Umbilical hernia
And 127 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to SLC25A24 gene
Here you will find a list of rare diseases related to the SLC25A24. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
PROGEROID SYNDROME, PETTY TYPE
Alternate names
PROGEROID SYNDROME, PETTY TYPE Is also known as petty syndrome, petty-laxova-wiedemann syndrome
Description
Progeroid syndrome, Petty type is a rare premature aging syndrome characterized by pre-and postnatal growth retardation, a congenital premature-aged appearance with distinctive craniofacial dysmorphism (wide calvaria with large open anterior fontanel and wide metopic suture, broad forehead, small face, micrognathia), markedly diminished subcutaneous fat, cutis laxa and wrinkled skin, without delay in psychomotor development. Scant, brittle hair, hypoplastic nails and delayed, abnormal dentition, as well as hypoplastic distal phalanges, umbilical hernia and eye abnormalities (myopia/hyperopia, strabismus), are also commonly associated.
Most common symptoms of PROGEROID SYNDROME, PETTY TYPE
- Short stature
- Failure to thrive
- Strabismus
- Epicanthus
- Intrauterine growth retardation
More info about PROGEROID SYNDROME, PETTY TYPE
SOURCES: ORPHANET
GORLIN-CHAUDHRY-MOSS SYNDROME
Alternate names
GORLIN-CHAUDHRY-MOSS SYNDROME Is also known as gcm syndrome, gorlin-chaudhry-moss syndrome, craniofacial dysostosis, hypertrichosis, hypoplasia of labia majora, dental and eye anomalies, patent ductus arteriosus, and normal intelligence, craniofacial dysostosis-genital, dental, cardiac anomalies syndrome
Description
Gorlin-Chaudhry-Moss (GCM) syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysostosis, facial dysmorphism, conductive hearing loss, generalized hypertrichosis, and extremity, ocular and dental anomalies.
Most common symptoms of GORLIN-CHAUDHRY-MOSS SYNDROME
- Global developmental delay
- Short stature
- Generalized hypotonia
- Hearing impairment
- Microcephaly
More info about GORLIN-CHAUDHRY-MOSS SYNDROME
Search interest in SLC25A24
Potential gene panels for SLC25A24 gene
Craniosynostosis Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Craniosynostosis Deletion / Duplication panel that also includes the following genes: SKI TCF12 TGFBR1 TGFBR2 TWIST1 ZIC1 IFT122 RAB23 CDC45 WDR19
More info about this panel United States.
Craniosynostosis Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Craniosynostosis Comprehensive panel that also includes the following genes: SKI TCF12 TGFBR1 TGFBR2 TWIST1 ZIC1 IFT122 RAB23 CDC45 WDR19
More info about this panel United States.
Craniosynostosis NGS panel Panel
United States.
By Connective Tissue Gene Tests Craniosynostosis NGS panel that also includes the following genes: SKI TCF12 TGFBR1 TGFBR2 TWIST1 ZIC1 IFT122 RAB23 CDC45 WDR19
More info about this panel United States.
Progeroid syndromes and related disorders NGS panel Panel
United States.
By Connective Tissue Gene Tests Progeroid syndromes and related disorders NGS panel that also includes the following genes: WRN ZMPSTE24 BSCL2 BANF1 B3GALT6 SLC25A24 AGPAT2 ERCC2 ERCC3 ERCC4
More info about this panel United States.
Progeroid syndromes and related disorders Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Progeroid syndromes and related disorders Comprehensive panel that also includes the following genes: WRN ZMPSTE24 BSCL2 BANF1 B3GALT6 SLC25A24 AGPAT2 ERCC2 ERCC3 ERCC4
More info about this panel United States.
Progeroid syndromes and related disorders Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Progeroid syndromes and related disorders Deletion / Duplication panel that also includes the following genes: WRN ZMPSTE24 BSCL2 BANF1 B3GALT6 SLC25A24 AGPAT2 ERCC2 ERCC3 ERCC4
More info about this panel United States.
SLC25A24 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the SLC25A24 gene.
More info about this panel United States.
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