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.

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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

SOURCES: ORPHANET OMIM

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

SOURCES: OMIM MESH ORPHANET


Potential gene panels for FAM111A gene

Hypoparathyroidism Deletion/Duplication Panel Panel

United States.

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 panel

Hypoparathyroidism sequencing panel Panel

United States.

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 panel

Kenny-Caffey syndrome, type 2 (KCS2, sequence analysis of FAM111A gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the FAM111A gene.

More info about this panel

Hypomagnesemia (NGS panel for 17 genes) Panel

Portugal.

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 panel

Hypomagnesemia (NGS panel for 17 genes) Panel

Portugal.

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 panel

Kenny-Caffey Syndrome Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Kenny-Caffey Syndrome Sequencing Panel with CNV Detection that also includes the following genes: TBCE FAM111A

More info about this panel

Hypoparathyroidism Sequencing Panel with CNV Detection Panel

United States.

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 panel

Hypomagnesemia Sequencing Panel with CNV Detection Panel

United States.

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 panel

Kenny-Caffey Syndrome Type 2 via FAM111A Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the FAM111A gene.

More info about this panel

Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection Panel

United States.

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 panel

Kenny-Caffey syndrome Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Kenny-Caffey syndrome Comprehensive panel that also includes the following genes: TBCE FAM111A

More info about this panel

Kenny-Caffey syndrome Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Kenny-Caffey syndrome Deletion / Duplication panel that also includes the following genes: TBCE FAM111A

More info about this panel

Kenny-Caffey syndrome NGS panel Panel

United States.

By Connective Tissue Gene Tests Kenny-Caffey syndrome NGS panel that also includes the following genes: TBCE FAM111A

More info about this panel

Kenny-Caffey syndrome, type 2 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the FAM111A gene.

More info about this panel

Selected Genetic Syndromes with skeletal involvement Panel Panel

Germany.

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 panel

Potentially lethal skeletal disorders Panel Panel

Germany.

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 panel

FAM111A Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the FAM111A gene.

More info about this panel

Hypomagnesemia Panel Panel

Finland.

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 panel

Comprehensive Metabolism Panel Panel

Finland.

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 panel

Comprehensive Skeletal Dysplasias and Disorders Panel Panel

Finland.

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 panel

Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel Panel

Finland.

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 panel


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