Global developmental delay, and Diabetes mellitus

Diseases related with Global developmental delay and Diabetes mellitus

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

Top matches:

PANCREATIC AGENESIS 2; PAGEN2 Is also known as pancreatic hypoplasia, congenital 2

Related symptoms:

  • Global developmental delay
  • Diabetes mellitus
  • Small for gestational age
  • Hepatic failure
  • Type I diabetes mellitus


SOURCES: OMIM MENDELIAN

More info about PANCREATIC AGENESIS 2; PAGEN2

AUTOSOMAL RECESSIVE ATAXIA DUE TO PEX10 DEFICIENCY Is also known as mild peroxismal disorder due to pex10 deficiency

Related symptoms:

  • Global developmental delay
  • Hyperreflexia
  • Dysarthria
  • Intellectual disability, mild
  • Pes cavus


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE ATAXIA DUE TO PEX10 DEFICIENCY

Succinyl-CoA:3-ketoacid CoA transferase deficiency (SCOTD) is a defect in ketone body utilization characterized by severe, potentially fatal intermittent episodes of ketoacidosis.

SUCCINYL-COA:3-KETOACID COA TRANSFERASE DEFICIENCY Is also known as scot deficiency|oxct1 deficiency|succinyl-coa:acetoacetate transferase deficiency|succinyl-coa acetoacetate transferase deficiency|succinyl-coa:3-ketoacid coa-transferase deficiency|succinyl-coa:3-oxoacid coa transferase deficiency|ketoacidosis due to sco

Related symptoms:

  • Global developmental delay
  • Feeding difficulties
  • Vomiting
  • Recurrent infections
  • Diabetes mellitus


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about SUCCINYL-COA:3-KETOACID COA TRANSFERASE DEFICIENCY

Other less relevant matches:

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Cleft palate
  • Depressed nasal bridge


SOURCES: OMIM MENDELIAN

More info about CONOTRUNCAL HEART MALFORMATIONS; CTHM

Proximal myopathy with extrapyramidal signs is a rare, hereditary non-dystrophic myopathy characterized by proximal muscle weakness, delayed motor development, learning difficulties, and progressive extrapyramidal motor signs including chorea, dystonia and tremor. Variable additional features have been reported - ataxia, microcephaly, ophthalmoplegia, ptosis, and optic atrophy.

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Ataxia
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about PROXIMAL MYOPATHY WITH EXTRAPYRAMIDAL SIGNS

MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1; MSSGM1 Is also known as mssgm

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1; MSSGM1

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

Microcephaly-2 with or without cortical malformations is an autosomal recessive neurodevelopmental disorder showing phenotypic variability. Classically, primary microcephaly is a clinical diagnosis made when an individual has a head circumference more than 3 standard deviations (SD) below the age- and sex-matched population mean, and mental retardation with no other associated malformations and with no apparent etiology (Hofman, 1984). Patients with WDR62 mutations have head circumferences ranging from low-normal to severe (-9.8 SD), and most patients with brain scans have shown various types of cortical malformations. All have delayed psychomotor development; seizures are variable (summary by Yu et al., 2010).For a general phenotypic description and a discussion of genetic heterogeneity of primary microcephaly, see MCPH1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Growth delay


SOURCES: OMIM MESH MENDELIAN

More info about MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICAL MALFORMATIONS; MCPH2

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

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

Top 5 symptoms//phenotypes associated to Global developmental delay and Diabetes mellitus

Symptoms // Phenotype % cases
Microcephaly Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Failure to thrive Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Global developmental delay and Diabetes mellitus. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Feeding difficulties Maternal diabetes

Rare Symptoms - Less than 30% cases

Hypoglycemia Ketoacidosis Respiratory failure Dystonia Abnormal facial shape Motor delay Absent speech Hypoplasia of the corpus callosum Delayed speech and language development Hyperactivity Abnormal cardiac septum morphology Intellectual disability, mild Hyperreflexia Type I diabetes mellitus Posteriorly rotated ears Abnormal lung morphology Generalized myoclonic seizures Esotropia Optic disc hypoplasia Growth delay Micrognathia Chronic diarrhea Wide nasal bridge Cerebral cortical atrophy Intrauterine growth retardation Hepatitis Intellectual disability, severe Long philtrum Cerebellar hypoplasia Aggressive behavior Intellectual disability, moderate Asthma Polymicrogyria EEG abnormality Encephalopathy Myoclonus Absence seizures Chronic lung disease Joint laxity Delayed puberty Wide nose Amenorrhea Prominent occiput Primary amenorrhea Insulin resistance Hyperinsulinemic hypoglycemia Decreased fetal movement Dorsocervical fat pad Delayed thelarche Relative macrocephaly Spasticity Abnormal intestine morphology Myopia Cerebral atrophy Short chin Sloping forehead Thick lower lip vermilion Clinodactyly Type 2 muscle fiber atrophy Hyponatremia Polyuria Hyperuricemia Hypomagnesemia Renal salt wasting Alkalosis Metabolic alkalosis Hyperechogenic kidneys Hypochloremic metabolic alkalosis Chronic kidney disease Camptodactyly Low-set ears Hypothyroidism Hepatomegaly Macrocephaly Proptosis Frontal bossing Diarrhea Splenomegaly Autoimmunity Leukopenia Tetraparesis Short neck Hemiparesis Heterotopia Pachygyria Spastic tetraparesis Lissencephaly Impulsivity Cortical gyral simplification Abnormal corpus callosum morphology Schizencephaly Ventricular hypertrophy Anemia Hypertension Renal insufficiency Thrombocytopenia Malabsorption Proteinuria Premature birth Pulmonary arterial hypertension Dolichocephaly Osteoporosis Abnormal posturing Scoliosis Ketonuria Lethargy Lactic acidosis Metabolic acidosis Coma Aciduria Tachypnea Loss of consciousness Hyperventilation Ketosis Methylmalonic aciduria Acidosis Episodic ketoacidosis Hypertelorism Cleft palate Depressed nasal bridge Ventricular septal defect Abnormality of cardiovascular system morphology Abnormality of metabolism/homeostasis Abnormal heart morphology Severe short stature Attention deficit hyperactivity disorder Recurrent infections Postaxial polydactyly Limb ataxia Small for gestational age Hepatic failure Steatorrhea Pancreatic hypoplasia Dysarthria Pes cavus Abnormal pyramidal sign Progressive cerebellar ataxia Type II diabetes mellitus Truncal ataxia Vomiting Oculomotor apraxia Progressive gait ataxia Impaired smooth pursuit Motor axonal neuropathy Mydriasis Diffuse cerebellar atrophy Abnormal head movements Very long chain fatty acid accumulation Abnormality of phytanic acid metabolism Narrow mouth Bifid uvula Short stature Increased variability in muscle fiber diameter Proximal muscle weakness Ophthalmoplegia Peripheral axonal neuropathy Dyskinesia Chorea Specific learning disability Abnormality of extrapyramidal motor function Involuntary movements Stereotypy Mildly elevated creatine phosphokinase Elevated serum creatine phosphokinase Resting tremor Centrally nucleated skeletal muscle fibers Difficulty running Insulin-resistant diabetes mellitus Orofacial dyskinesia Abnormal basal ganglia MRI signal intensity Progressive extrapyramidal movement disorder Progressive extrapyramidal muscular rigidity Central core regions in muscle fibers Difficulty walking Myopathy Tetralogy of Fallot Truncus arteriosus Coarctation of aorta Short palpebral fissure Hypocalcemia Nasal speech Broad hallux Transposition of the great arteries Submucous cleft hard palate Hypoparathyroidism Double outlet right ventricle Pulmonary artery atresia Cardiomyopathy Complete atrioventricular canal defect Aortopulmonary window Anomalous origin of one pulmonary artery from ascending aorta Hearing impairment Ataxia Muscle weakness Ptosis Peripheral neuropathy Optic atrophy Tremor Interstitial pneumonitis


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Colitis, related diseases and genetic alterations Motor delay and Postaxial polydactyly, related diseases and genetic alterations Hyperreflexia and Joint stiffness, related diseases and genetic alterations Ptosis and Memory impairment, related diseases and genetic alterations Cognitive impairment and Retinal dystrophy, related diseases and genetic alterations Cataract and Anxiety, related diseases and genetic alterations