Failure to thrive, and Diabetes mellitus

Diseases related with Failure to thrive and Diabetes mellitus

In the following list you will find some of the most common rare diseases related to Failure to thrive and Diabetes mellitus that can help you solving undiagnosed cases.

Top matches:

Partial agenesis of the pancreas is characterized by the congenital absence of a critical mass of pancreatic tissue.

PARTIAL PANCREATIC AGENESIS Is also known as congenital pancreatic agenesis|pancreatic hypoplasia, congenital|pagen|partial agenesis of the pancreas

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Intrauterine growth retardation
  • Diabetes mellitus
  • Malabsorption


SOURCES: ORPHANET OMIM MENDELIAN

More info about PARTIAL PANCREATIC AGENESIS

Neonatal diabetes mellitus (NDM), defined as insulin-requiring hyperglycemia within the first month 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 and resolves at a median age of 3 months, whereas the rest have a permanent form of diabetes (OMIM ). In a significant number of patients with transient neonatal diabetes mellitus, type II diabetes appears later in life (Arthur et al., 1997).The major cause of transient neonatal diabetes (TND) is aberrant expression of imprinted genes at chromosome 6q24, associated in 20% of cases with DNA hypomethylation at the TND differentially methylated region (DMR), which lies within the imprinted promoter of the PLAGL1 gene ({603044}; Mackay et al., 2005). Over 50% of individuals with TND and hypomethylation at 6q24 also show mosaic DNA hypomethylation at other imprinted loci throughout the genome and a range of additional clinical features. Genetic Heterogeneity of Transient Neonatal DiabetesTNDM2 (OMIM ) is caused by mutation in the ABCC8 gene (OMIM ) on chromosome 11p15.1. TNDM3 (OMIM ) is caused by mutation in the KCNJ11 gene (OMIM ), also located on 11p15.1.

DIABETES MELLITUS, TRANSIENT NEONATAL, 1 Is also known as tndm1|dmtn|tndm

Related symptoms:

  • Growth delay
  • Hypertelorism
  • Failure to thrive
  • Intrauterine growth retardation
  • Talipes equinovarus


SOURCES: OMIM MENDELIAN

More info about DIABETES MELLITUS, TRANSIENT NEONATAL, 1

Enteric anendocrinosis is a very rare genetic gastroenterological disease characterized by severe malabsorptive diarrhea (requiring parenteral nutrition and disappearing at fasting) due to a lack of intestinal enteroendocrine cells. It is associated with early-onset (within the first weeks of life) dehydration, metabolic acidosis and diabetes mellitus (that can develop until late childhood). Patient may display various degrees of pancreatic insufficiency that does not explain diarrhea, as it is not reduced with pancreatic enzyme supplementation. Central hypogonadism (developing in the second decade), as well as an association with celiac disease have been reported.

ENTERIC ANENDOCRINOSIS Is also known as enteric anendocrinosis|congenital malabsorptive diarrhea due to paucity of enteroendocrine cells

Related symptoms:

  • Failure to thrive
  • Vomiting
  • Diarrhea
  • Acidosis
  • Malabsorption


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ENTERIC ANENDOCRINOSIS

Other less relevant matches:

COXPD35 is an autosomal recessive disorder characterized mainly by global developmental delay with intellectual disability, microcephaly, and early-onset myoclonic and other types of seizures. Affected individuals have variable deficiencies of mitochondrial respiratory enzyme complexes resulting from a defect in mitochondrial metabolism (summary by Kernohan et al., 2017).For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35; COXPD35

Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome is a rare, genetic, mitochondrial disease characterized by early-onset progressive renal failure, manifesting with hyperuricemia, hyponatremia, hypomagnesemia, hypochloremic metabolic alkalosis, elevated BUN and polyuria, associated with systemic manifestations which include pulmonary hypertension, failure to thrive, global developmental delay, hypotonia and ventricular hypertrophy. Additional features include prematurity, elevated serum lactate, diabetes mellitus and, in some, pancytopenia.

HYPERURICEMIA-PULMONARY HYPERTENSION-RENAL FAILURE-ALKALOSIS SYNDROME Is also known as hupra syndrome

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Anemia
  • Feeding difficulties


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPERURICEMIA-PULMONARY HYPERTENSION-RENAL FAILURE-ALKALOSIS SYNDROME

Immunodysregulation - polyendocrinopathy - enteropathy - X-linked (IPEX) syndrome is a severe congenital systemic autoimmune disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections.

IMMUNE DYSREGULATION-POLYENDOCRINOPATHY-ENTEROPATHY-X-LINKED SYNDROME Is also known as enteropathy, autoimmune, with hemolytic anemia and polyendocrinopathy|ipex|autoimmune enteropathy type 1|iddm-secretory diarrhea syndrome|x-linked autoimmunity-allergic dysregulation syndrome|polyendocrinopathy, immune dysfunction, and diarrhea, x-linked|

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Anemia
  • Intrauterine growth retardation
  • Diarrhea


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about IMMUNE DYSREGULATION-POLYENDOCRINOPATHY-ENTEROPATHY-X-LINKED SYNDROME

Syndromic multisystem autoimmune disease due to Itch deficiency is a rare, genetic, systemic autoimmune disease characterized by failure to thrive, global developmental delay, distictive craniofacial dysmorphism (relative macrocephaly, dolichocephaly, frontal bossing, orbital proptosis, flattened midface with a prominent occiput, low, posteriorly rotated ears, micrognatia), hepato- and/or splenomegaly, and multisystemic autoimmune disease involving the lungs, liver, gut and/or thyroid gland.

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Abnormal facial shape
  • Low-set ears


SOURCES: OMIM ORPHANET MENDELIAN

More info about SYNDROMIC MULTISYSTEM AUTOIMMUNE DISEASE DUE TO ITCH DEFICIENCY

Prohormone convertase-I deficiency is the rarest form of monogenic obesity. The disorder is characterised by severe childhood obesity, hypoadrenalism, reactive hypoglycaemia, and elevated circulating levels of certain prohormones.

OBESITY DUE TO PROHORMONE CONVERTASE I DEFICIENCY Is also known as obesity and endocrinopathy due to impaired processing of prohormones|pci deficiency

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Diarrhea
  • Obesity
  • Delayed skeletal maturation


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about OBESITY DUE TO PROHORMONE CONVERTASE I DEFICIENCY

Medium match RAMON SYNDROME

A slowly progressive syndrome of cherubic facies (fullness of the cheeks, producing a typical chubby face suggestive of a cherub) maxillary fibrous dysplasia, gingival enlargement, radiolucent lesions of the jaws, seizures, delayed mental development, stunted growth, and other defects. Insulin dependent diabetes mellitus and vascular skin lesions may occur.

RAMON SYNDROME Is also known as cherubism-gingival fibromatosis-intellectual disability syndrome|cherubism, gingival fibromatosis, epilepsy, mental deficiency, hypertrichosis, and stunted growth

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about RAMON SYNDROME

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.

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

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Failure to thrive


SOURCES: ORPHANET MENDELIAN

More info about PERMANENT NEONATAL DIABETES MELLITUS

Top 5 symptoms//phenotypes associated to Failure to thrive and Diabetes mellitus

Symptoms // Phenotype % cases
Growth delay Uncommon - Between 30% and 50% cases
Intrauterine growth retardation Uncommon - Between 30% and 50% cases
Malabsorption Uncommon - Between 30% and 50% cases
Diarrhea Uncommon - Between 30% and 50% cases
Type I diabetes mellitus Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Failure to thrive and Diabetes mellitus. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Hyperglycemia Global developmental delay Dehydration Intellectual disability Generalized hypotonia Hypothyroidism Glucose intolerance Pancreatic hypoplasia

Rare Symptoms - Less than 30% cases

Sepsis Arthritis Generalized myoclonic seizures Autoimmunity Hepatitis Abnormal intestine morphology Anemia Feeding difficulties Thrombocytopenia Respiratory failure Seizures Hearing impairment Retinopathy Decreased body weight Polyuria Maternal diabetes Villous atrophy Type II diabetes mellitus Neonatal insulin-dependent diabetes mellitus Increased adipose tissue Delayed skeletal maturation Obesity Interstitial pneumonitis Chronic lung disease Hypothalamic hypothyroidism Cholestasis Reactive hypoglycemia Prominent occiput Short stature Relative macrocephaly Scoliosis Sensorineural hearing impairment Kyphosis Hyperkeratosis Childhood-onset truncal obesity Central adrenal insufficiency Hypogonadism Hypopigmentation of the skin Hypogonadotrophic hypogonadism Acanthosis nigricans Hyperinsulinemia Conductive hearing impairment Primary amenorrhea Amenorrhea Growth hormone deficiency Diabetes insipidus Hypoglycemic seizures Polyphagia Delayed puberty Pituitary hypothyroidism Decreased circulating cortisol level Hypoglycemia Gonadotropin deficiency Red hair Polydipsia Abnormality of retinal pigmentation Pallor Bilateral ptosis Abnormal heart morphology Weight loss Generalized tonic-clonic seizures Arthrogryposis multiplex congenita Peripheral axonal neuropathy Downturned corners of mouth Coma Apraxia Neurodevelopmental delay Motor delay Glycosuria Prominent metopic ridge Renal tubular dysfunction Ketonuria Autoimmune antibody positivity Abnormality of the upper urinary tract Microalbuminuria Hypovolemia Contractures of the joints of the lower limbs Intellectual disability, severe Muscular hypotonia Abnormality of skin pigmentation Narrow palate Delayed eruption of teeth Full cheeks Pigmentary retinopathy Optic disc pallor Hypertrichosis Telangiectasia Chronic diarrhea Generalized hirsutism Abnormality of dental enamel Ataxia Osteolysis Rheumatoid arthritis Telangiectasia of the skin Juvenile rheumatoid arthritis Gingival fibromatosis Abnormal anterior chamber morphology Angiokeratoma Axenfeld anomaly Enlarged labia minora Short chin Immune dysregulation Abnormal lung morphology Myoclonus Delayed speech and language development Myopia Hypoplasia of the corpus callosum Dystonia Cerebral atrophy Absent speech Encephalopathy Cerebral cortical atrophy Microcephaly EEG abnormality Abnormal cardiac septum morphology Esotropia Optic disc hypoplasia Hypertension Renal insufficiency Proteinuria Premature birth Spasticity Abnormal cellular phenotype Ventricular hypertrophy Severe intrauterine growth retardation Increased body weight Exocrine pancreatic insufficiency Maturity-onset diabetes of the young Hypertelorism Talipes equinovarus Small for gestational age Macroglossia Overgrowth Severe failure to thrive Hyperchloremic metabolic acidosis Premature atrial contractions Transient neonatal diabetes mellitus Hypoinsulinemia Vomiting Acidosis Metabolic acidosis Portal hypertension Cholestatic liver disease Pulmonary arterial hypertension Leukopenia Asthma Low-set ears Abnormality of the thyroid gland Autoimmune hemolytic anemia Thyroiditis Ketoacidosis Ileus Intractable diarrhea Secretory diarrhea Abnormal facial shape Hepatomegaly Abnormality of the coagulation cascade Macrocephaly Frontal bossing Splenomegaly Clinodactyly Posteriorly rotated ears Proptosis Camptodactyly Dolichocephaly Malnutrition Erythroderma Chronic kidney disease Hypochloremic metabolic alkalosis Hyponatremia Hyperuricemia Hypomagnesemia Renal salt wasting Alkalosis Metabolic alkalosis Hyperechogenic kidneys Type 2 muscle fiber atrophy Immunodeficiency Nephritis Recurrent infections Lymphadenopathy Hemolytic anemia Eczema Nephrotic syndrome Inflammatory abnormality of the skin Cardiac arrest Eosinophilia Reduced pancreatic beta cells


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