FAM111A gene related symptoms and diseases
All the information presented here about the FAM111A 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 FAM111A gene
Symptoms // Phenotype | % Cases |
---|---|
Seizures | Very Common - Between 80% and 100% cases |
Intrauterine growth retardation | Very Common - Between 80% and 100% cases |
Global developmental delay | Very Common - Between 80% and 100% cases |
Decreased skull ossification | Very Common - Between 80% and 100% cases |
Small for gestational age | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with FAM111A gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Prominent forehead
- Severe short stature
- Microphthalmia
- Hypocalcemia
- Short stature
- Growth delay
- Abnormal facial shape
- Failure to thrive
And 95 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to FAM111A gene
Here you will find a list of rare diseases related to the FAM111A. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
AUTOSOMAL DOMINANT KENNY-CAFFEY SYNDROME
Alternate names
AUTOSOMAL DOMINANT KENNY-CAFFEY SYNDROME Is also known as kenny syndrome, dwarfism, cortical thickening of tubular bones, and transient hypocalcemia
Description
Kenny-Caffey syndrome is characterized by severe proportionate short stature, cortical thickening and medullary stenosis of the tubular bones, delayed closure of the anterior fontanel, eye abnormalities, and transient hypocalcemia. Patients with autosomal dominant KCS type 2 have normal intelligence (Kenny and Linarelli, 1966; Caffey, 1967; summary by Isojima et al., 2014).See KCS1 (OMIM ) for a discussion of an autosomal recessive form of Kenny-Caffey syndrome.
Most common symptoms of AUTOSOMAL DOMINANT KENNY-CAFFEY SYNDROME
- Seizures
- Global developmental delay
- Short stature
- Growth delay
- Hypertelorism
More info about AUTOSOMAL DOMINANT KENNY-CAFFEY SYNDROME
OSTEOCRANIOSTENOSIS
Alternate names
OSTEOCRANIOSTENOSIS Is also known as habrodysplasia, osteocraniostenosis, gracile bone dysplasia, skeletal dysplasia, lethal, with gracile bones, osteocraniosplenic syndrome
Description
Osteocraniostenosis is a lethal skeletal dysplasia characterized by a cloverleaf skull anomaly, facial dysmorphism, limb shortness, splenic hypo/aplasia and radiological anomalies including thin tubular bones with flared metaphyses and deficient calvarial mineralization.
Most common symptoms of OSTEOCRANIOSTENOSIS
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
- Microcephaly
More info about OSTEOCRANIOSTENOSIS
Search interest in FAM111A
Potential gene panels for FAM111A gene
Hypoparathyroidism Deletion/Duplication Panel Panel
By Genetic Services Laboratory University of Chicago Hypoparathyroidism Deletion/Duplication Panel that also includes the following genes: STX16 TBCE TBX1 CASR CHD7 FAM111A CYP24A1 AIRE GATA3 GCM2
More info about this panelHypoparathyroidism sequencing panel Panel
By Genetic Services Laboratory University of Chicago Hypoparathyroidism sequencing panel that also includes the following genes: STX16 TBCE TBX1 CASR CDH7 FAM111A CYP24A1 AIRE GATA3 GCM2
More info about this panelKenny-Caffey syndrome, type 2 (KCS2, sequence analysis of FAM111A gene) Panel
By CGC Genetics
This panel specifically test the FAM111A gene.
More info about this panelHypomagnesemia (NGS panel for 17 genes) Panel
By CGC Genetics Hypomagnesemia (NGS panel for 17 genes) that also includes the following genes: CNNM2 SLC12A3 HNF1B CASR BSND SARS2 TRPM6 CLCNKB CLDN16 CLDN19
More info about this panelHypomagnesemia (NGS panel for 17 genes) Panel
By CGC Genetics Hypomagnesemia (NGS panel for 17 genes) that also includes the following genes: CNNM2 SLC12A3 HNF1B CASR BSND SARS2 TRPM6 CLCNKB CLDN16 CLDN19
More info about this panelKenny-Caffey Syndrome Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Kenny-Caffey Syndrome Sequencing Panel with CNV Detection that also includes the following genes: TBCE FAM111A
More info about this panelHypoparathyroidism Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Hypoparathyroidism Sequencing Panel with CNV Detection that also includes the following genes: SOX3 STX16 TBCE CASR FAM111A AIRE GATA3 GCM2 GNA11 GNAS
More info about this panelHypomagnesemia Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Hypomagnesemia Sequencing Panel with CNV Detection that also includes the following genes: CNNM2 SLC12A3 HNF1B CASR BSND SARS2 TRPM6 CLDN16 CLDN19 FAM111A
More info about this panelKenny-Caffey Syndrome Type 2 via FAM111A Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the FAM111A gene.
More info about this panelSkeletal Disorders and Joint Problems Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection that also includes the following genes: RMRP ROR2 RUNX2 SALL1 BMP1 BMP2 BMPR1B SF3B4 SH3BP2 FBXW4
More info about this panelKenny-Caffey syndrome Comprehensive panel Panel
By Connective Tissue Gene Tests Kenny-Caffey syndrome Comprehensive panel that also includes the following genes: TBCE FAM111A
More info about this panelKenny-Caffey syndrome Deletion / Duplication panel Panel
By Connective Tissue Gene Tests Kenny-Caffey syndrome Deletion / Duplication panel that also includes the following genes: TBCE FAM111A
More info about this panelKenny-Caffey syndrome NGS panel Panel
By Connective Tissue Gene Tests Kenny-Caffey syndrome NGS panel that also includes the following genes: TBCE FAM111A
More info about this panelKenny-Caffey syndrome, type 2 Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the FAM111A gene.
More info about this panelSelected Genetic Syndromes with skeletal involvement Panel Panel
By CeGaT GmbH Selected Genetic Syndromes with skeletal involvement Panel that also includes the following genes: SALL1 SF3B4 TBCE TBX15 TBX3 TBX5 NIN SALL4 PCNT ORC6
More info about this panelPotentially lethal skeletal disorders Panel Panel
By CeGaT GmbH Potentially lethal skeletal disorders Panel that also includes the following genes: SLC26A2 SOX9 TRIP11 WNT7A NSDHL TRPV4 P3H1 CANT1 SLC35D1 COL11A1
More info about this panelFAM111A Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the FAM111A gene.
More info about this panelHypomagnesemia Panel Panel
By Blueprint Genetics Hypomagnesemia Panel that also includes the following genes: CNNM2 CNNM4 SLC12A3 HNF1B CASR BSND NIPA2 SARS2 TRPM6 CLCNKB
More info about this panelComprehensive Metabolism Panel Panel
By Blueprint Genetics Comprehensive Metabolism Panel that also includes the following genes: BCS1L CNNM2 RYR1 CNNM4 SCN4A SEC23B SGSH SI SLC40A1 SLC12A3
More info about this panelComprehensive Skeletal Dysplasias and Disorders Panel Panel
By Blueprint Genetics Comprehensive Skeletal Dysplasias and Disorders Panel that also includes the following genes: RMRP ROR2 BGN RUNX2 BMP1 BMP2 BMPR1B SF3B4 SH3BP2 SHOX
More info about this panelComprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel Panel
By Blueprint Genetics Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel that also includes the following genes: RIT1 RMRP BCS1L ROR2 BGN RRAS RUNX2 BMP1 BMP2 SEC24D
More info about this panelIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like PIK3C2B SLC16A1 CDH3 SMAD6 HAMP GNPTAB PTAFR