ABCC8 gene related symptoms and diseases

All the information presented here about the ABCC8 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,OMIM,HGNC, Mendelian Rare Disease Search Engine.

Table of contents:

Main symptoms and clinical features
Other symptoms and clinical features
Related Diseases
Current trends
Suitable testing panels

Top 5 symptoms and clinical features associated to ABCC8 gene

Symptoms // Phenotype	% Cases
Hyperglycemia	Uncommon - Between 30% and 50% cases
Diabetes mellitus	Uncommon - Between 30% and 50% cases
Coma	Uncommon - Between 30% and 50% cases
Intellectual disability	Uncommon - Between 30% and 50% cases
Seizures	Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with ABCC8 gene alterations may also develop some of the following symptoms and phenotypes:

Not very common - Between 30% and 50% cases
Global developmental delay
Type II diabetes mellitus
Rarely - Less than 30% cases
Bilateral ptosis
Insulin resistance
Prominent metopic ridge
Dehydration
Transient neonatal diabetes mellitus
Hyperinsulinemic hypoglycemia

And 106 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to ABCC8 gene

Here you will find a list of rare diseases related to the ABCC8. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

TRANSIENT NEONATAL DIABETES MELLITUS

Alternate names

TRANSIENT NEONATAL DIABETES MELLITUS Is also known as tndm3, tndm

Description

Transient neonatal diabetes mellitus (TNDM) is a genetically heterogeneous form of neonatal diabetes (NDM, see this term) characterized by hyperglycemia presenting in the neonatal period that remits during infancy but recurs in later life in most patients.

Most common symptoms of TRANSIENT NEONATAL DIABETES MELLITUS

Intellectual disability
Seizures
Global developmental delay
Hearing impairment
Failure to thrive

More info about TRANSIENT NEONATAL DIABETES MELLITUS

SOURCES: ORPHANET OMIM

DIABETES MELLITUS, TRANSIENT NEONATAL, 2

Alternate names

DIABETES MELLITUS, TRANSIENT NEONATAL, 2 Is also known as tndm2

Most common symptoms of DIABETES MELLITUS, TRANSIENT NEONATAL, 2

Type II diabetes mellitus
Transient neonatal diabetes mellitus

More info about DIABETES MELLITUS, TRANSIENT NEONATAL, 2

SOURCES: OMIM

HYPOGLYCEMIA, LEUCINE-INDUCED; LIH

Alternate names

HYPOGLYCEMIA, LEUCINE-INDUCED; LIH Is also known as leucine-sensitive hypoglycemia of infancy

Most common symptoms of HYPOGLYCEMIA, LEUCINE-INDUCED; LIH

Intellectual disability
Seizures
Ataxia
Strabismus
Spasticity

More info about HYPOGLYCEMIA, LEUCINE-INDUCED; LIH

SOURCES: OMIM MESH

MODY

Alternate names

MODY Is also known as maturity-onset diabetes of the young, mason-type diabetes

Description

MODY (maturity-onset diabetes of the young) is a rare, familial, clinically and genetically heterogeneous form of diabetes characterized by young age of onset (generally 10-45 years of age) with maintenance of endogenous insulin production, lack of pancreatic beta-cell autoimmunity, absence of obesity and insulin resistance and extra-pancreatic manifestations in some subtypes.

Most common symptoms of MODY

Hypertension
Diabetes mellitus
Retinopathy
Type II diabetes mellitus
Insulin resistance

More info about MODY

SOURCES: OMIM ORPHANET

HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1; HHF1

Alternate names

HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1; HHF1 Is also known as persistent hyperinsulinemic hypoglycemia of infancy, hyperinsulinism, congenital, hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia, hypoglycemia, hyperinsulinemic, of infancy, hyperinsulinism, familial, with pancreatic nesidioblastosis, phhi,

Description

Familial hyperinsulinism, also referred to as congenital hyperinsulinism, nesidioblastosis, or persistent hyperinsulinemic hypoglycemia of infancy (PPHI), is the most common cause of persistent hypoglycemia in infancy and is due to defective negative feedback regulation of insulin secretion by low glucose levels. Unless early and aggressive intervention is undertaken, brain damage from recurrent episodes of hypoglycemia may occur (Thornton et al., 1998). Genetic Heterogeneity of Hyperinsulinemic HypoglycemiaHHF2 (OMIM ) is caused by mutation in the KCNJ11 gene (OMIM ) on chromosome 11p15. HHF3 (OMIM ) is caused by mutation in the glucokinase gene (GCK ) on chromosome 7p13. HHF4 (OMIM ) is caused by mutation in the HADH gene (OMIM ) on chromosome 4q25. HHF5 (OMIM ) is caused by mutation in the insulin receptor gene (INSR ) on chromosome 19p13. HHF6 (OMIM ) is caused by mutation in the GLUD1 gene (OMIM ) on chromosome 10q23. HHF7 (OMIM ) is caused by mutation in the SLC16A1 (OMIM ) on chromosome 1p13. There is evidence of further genetic heterogeneity of HHF.

Most common symptoms of HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1; HHF1

Intellectual disability
Neoplasm
Diabetes mellitus
Hypoglycemia
Coma

More info about HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1; HHF1

SOURCES: OMIM

PERMANENT NEONATAL DIABETES MELLITUS

Alternate names

PERMANENT NEONATAL DIABETES MELLITUS Is also known as monogenic diabetes of infancy, pndm

Description

Permanent neonatal diabetes mellitus (PNDM) is a monogenic form of neonatal diabetes (NDM, see this term) characterized by persistent hyperglycemia within the first 12 months of life in general, requiring continuous insulin treatment.

Most common symptoms of PERMANENT NEONATAL DIABETES MELLITUS

Intellectual disability
Global developmental delay
Hearing impairment
Ataxia
Failure to thrive

More info about PERMANENT NEONATAL DIABETES MELLITUS

SOURCES: ORPHANET

DIABETES MELLITUS, PERMANENT NEONATAL; PNDM

Alternate names

DIABETES MELLITUS, PERMANENT NEONATAL; PNDM Is also known as diabetes mellitus, permanent, of infancy, pdmi

Description

Neonatal diabetes mellitus (NDM), defined as insulin-requiring hyperglycemia within the first 3 months of life, is a rare entity, with an estimated incidence of 1 in 400,000 neonates (Shield, 2000). In about half of the neonates, diabetes is transient (see {601410}) and resolves at a median age of 3 months, whereas the rest have a permanent insulin-dependent form of diabetes (PNDM). In a significant number of patients with transient neonatal diabetes mellitus, type II diabetes (see {125853}) appears later in life (Arthur et al., 1997). PNDM is distinct from childhood-onset autoimmune diabetes mellitus type I (IDDM ).Massa et al. (2005) noted that the diagnostic time limit for PNDM has changed over the years, ranging from onset within 30 days of birth to 3 months of age. However, as patients with the clinical phenotype caused by mutation in the KCNJ11 gene have been identified with onset up to 6 months of age, Massa et al. (2005) suggested that the term 'permanent diabetes mellitus of infancy' (PDMI) replace PNDM as a more accurate description, and include those who present up to 6 months of age. The authors suggested that the new acronym be linked to the gene product (e.g., GCK-PDMI, KCNJ11-PDMI) to avoid confusion with patients with early-onset, autoimmune type I diabetes.Colombo et al. (2008) proposed that, because individuals with INS gene mutations may present with diabetes well beyond 6 months of age and cannot be distinguished from patients with type 1 diabetes except for the absence of type 1 diabetes autoantibodies, the term PNDM should be replaced with 'monogenic diabetes of infancy (MDI),' a broad definition including any form of diabetes, permanent or transient, with onset during the first years of life and caused by a single gene defect.

Most common symptoms of DIABETES MELLITUS, PERMANENT NEONATAL; PNDM

Seizures
Global developmental delay
Generalized hypotonia
Failure to thrive
Muscle weakness

More info about DIABETES MELLITUS, PERMANENT NEONATAL; PNDM

SOURCES: OMIM ORPHANET

DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM

Alternate names

DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM Is also known as noninsulin-dependent diabetes mellitus, maturity-onset diabetes, diabetes mellitus, type ii, t2d

Most common symptoms of DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM

Diabetes mellitus
Type II diabetes mellitus
Insulin resistance
Type I diabetes mellitus
Hyperinsulinemia

More info about DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM

SOURCES: OMIM ORPHANET

AUTOSOMAL DOMINANT HYPERINSULINISM DUE TO SUR1 DEFICIENCY

Alternate names

AUTOSOMAL DOMINANT HYPERINSULINISM DUE TO SUR1 DEFICIENCY Is also known as autosomal dominant hyperinsulinemic hypoglycemia due to sur1 deficiency

Description

Autosomal dominant hyperinsulinism due to SUR1 deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by hypoglycemic epiosodes that are usually mild, escaping detection during infancy and usually a good clinical response to diazoxide. Autosomal dominant hyperinsulinism due to SUR1 deficiency usually has a milder phenotype when compared to that resulting from recessive K-ATP mutations (recessive forms of Diazoxide-resistant hyperinsulinism, see this term).

Most common symptoms of AUTOSOMAL DOMINANT HYPERINSULINISM DUE TO SUR1 DEFICIENCY

Seizures
Global developmental delay
Microcephaly
Cognitive impairment
Hepatomegaly

More info about AUTOSOMAL DOMINANT HYPERINSULINISM DUE TO SUR1 DEFICIENCY

SOURCES: ORPHANET

DIAZOXIDE-RESISTANT FOCAL HYPERINSULINISM DUE TO SUR1 DEFICIENCY

Alternate names

DIAZOXIDE-RESISTANT FOCAL HYPERINSULINISM DUE TO SUR1 DEFICIENCY Is also known as hyperinsulinemic hypoglycemia due to sur1 deficiency, diazoxide-resistant focal form

Description

Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency is a rare congenital isolated hyperinsulinism characterized by diazoxide unresponsive recurrent episodes of hyperinsulinemic hypoglycemia due to an excessive insulin secretion by the pancreatic bêta-cells. Hypoglycemia may lead to variable clinical manifestation, ranging from asymptomatic hypoglycemia revealed by routine blood glucose monitoring to macrosomia at birth, mild to moderate hepatomegaly and life-threatening hypoglycemic coma or status epilepticus, further leading to poor neurological outcome. The disease is associated with homozygosity of a paternally inherited mutation of ABCC8 (encoding the sulfonylurea receptor (SUR1) subunit of the pancreatic ATP-sensitive potassium channel) in the hyperplastic pancreatic islets, most commonly a result of a heterozygous paternally inherited mutation and a somatic event, leading to the loss of the maternal allele.

More info about DIAZOXIDE-RESISTANT FOCAL HYPERINSULINISM DUE TO SUR1 DEFICIENCY

SOURCES: ORPHANET

AUTOSOMAL RECESSIVE HYPERINSULINISM DUE TO SUR1 DEFICIENCY

Alternate names

AUTOSOMAL RECESSIVE HYPERINSULINISM DUE TO SUR1 DEFICIENCY Is also known as autosomal recessive hyperinsulinemic hypoglycemia due to sur1 deficiency

More info about AUTOSOMAL RECESSIVE HYPERINSULINISM DUE TO SUR1 DEFICIENCY

SOURCES: ORPHANET

Search interest in ABCC8

Potential gene panels for ABCC8 gene

GeneAware Complete Panel Version 2 (Female) Panel

United States.

By Baylor Miraca Genetics Laboratories GeneAware Complete Panel Version 2 (Female) that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5

ABCC8 gene related symptoms and diseases

Top 5 symptoms and clinical features associated to ABCC8 gene

Other less frequent symptoms and clinical features

Not very common - Between 30% and 50% cases

Rarely - Less than 30% cases

Rare diseases associated to ABCC8 gene

TRANSIENT NEONATAL DIABETES MELLITUS

Alternate names

Description

Most common symptoms of TRANSIENT NEONATAL DIABETES MELLITUS

DIABETES MELLITUS, TRANSIENT NEONATAL, 2

Alternate names

Most common symptoms of DIABETES MELLITUS, TRANSIENT NEONATAL, 2

HYPOGLYCEMIA, LEUCINE-INDUCED; LIH

Alternate names

Most common symptoms of HYPOGLYCEMIA, LEUCINE-INDUCED; LIH

MODY

Alternate names

Description

Most common symptoms of MODY

HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1; HHF1

Alternate names

Description

Most common symptoms of HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1; HHF1

PERMANENT NEONATAL DIABETES MELLITUS

Alternate names

Description

Most common symptoms of PERMANENT NEONATAL DIABETES MELLITUS

DIABETES MELLITUS, PERMANENT NEONATAL; PNDM

Alternate names

Description

Most common symptoms of DIABETES MELLITUS, PERMANENT NEONATAL; PNDM

DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM

Alternate names

Most common symptoms of DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM

AUTOSOMAL DOMINANT HYPERINSULINISM DUE TO SUR1 DEFICIENCY

Alternate names

Description

Most common symptoms of AUTOSOMAL DOMINANT HYPERINSULINISM DUE TO SUR1 DEFICIENCY

DIAZOXIDE-RESISTANT FOCAL HYPERINSULINISM DUE TO SUR1 DEFICIENCY

Alternate names

Description

AUTOSOMAL RECESSIVE HYPERINSULINISM DUE TO SUR1 DEFICIENCY

Alternate names

Search interest in ABCC8

Potential gene panels for ABCC8 gene

GeneAware Complete Panel Version 2 (Female) Panel

GeneAware Complete Panel Version 2 (Male) Panel

GeneAware Ashkenazi Jewish Panel Version 2 (Female) Panel

GeneAware Ashkenazi Jewish Panel Version 2 (Male) Panel

Congenital Hyperinsulinism Evaluation Panel

Neonatal Diabetes Mellitus Evaluation Panel

ABCC8 (NDM) DNA Sequencing Test Panel

ABCC8 (CH) DNA Sequencing Test Panel

Ashkenazi Jewish Carrier Screening Panel Panel

Maturity-Onset Diabetes of the Young Panel

Level 1: Congenital Hyperinsulinisim Panel Panel

Level 2: Expanded Congenital Hyperinsulinism Panel Panel

Maturity-onset Diabetes of the Young Panel Panel

MODY Deletion/Duplication Panel Panel

Neonatal Diabetes Mellitus and Maturity-Onset Diabetes of the Young Deletion/Duplication Panel Panel

Neonatal Diabetes Mellitus and Maturity-Onset Diabetes of the Young Panel Panel

Tier 1 Panel: Diazoxide Unresponsive Hyperinsulinism Panel

Comprehensive Neonatal Diabetes Mutation Analysis Panel

Comprehensive Familial Hyperinsulinism Panel Panel

MODY Panel Panel

Neonatal Diabetes Mellitus Deletion/Duplication Analysis Panel

Neonatal Diabetes Mellitus Sequencing Panel Panel

Ashkenazi Jewish Diseases, 16 Genes Panel

ABCC8-Related Hyperinsulinism, 3 Variants Panel

ABCC8 mutation analysis Panel

ABCC8. Detection of the mutations c.560T>A (p.Val187Asp), c.3989-9G>A and c.4159_4161del (p.Phe1387del) Panel

ABCC8. Complete sequencing Panel

ABCC8. Complete sequencing Panel

Permanent Neonatal Diabetes Mellitus (sequence analysis of ABCC8 gene) Panel

Permanent neonatal diabetes mellitus (deletion/duplication analysis of ABCC8 gene) Panel

Hyperinsulinemic hypoglycemia, familial, 1 (sequence analysis of ABCC8 gene) Panel

Hyperinsulinemic hypoglycemia, familial, 1 (deletion/duplication analysis of ABCC8 gene) Panel

MODY (NGS panel for 13 genes) Panel

Diabetes mellitus permanent neonatal (NGS panel for 13 genes) Panel