Generalized hypotonia, and Diabetes mellitus

Diseases related with Generalized hypotonia and Diabetes mellitus

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

Top matches:

Tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia (HPA) D is an autosomal recessive disorder characterized by mild transient hyperphenylalaninemia often detected by newborn screening. Patients also show increased excretion of 7-biopterin. Affected individuals are asymptomatic and show normal psychomotor development, although transient neurologic deficits in infancy have been reported (Thony et al., 1998). Patients may also develop hypomagnesemia and nonautoimmune diabetes mellitus during puberty (summary by Ferre et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of BH4-deficient hyperphenylalaninemia, see HPABH4A (OMIM ).

HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D; HPABH4D Is also known as hyperphenylalaninemia with primapterinuria|hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to pterin-4-alpha-carbinolamine dehydratase deficiency|pcbd deficiency|cadh deficiency

Related symptoms:

  • Generalized hypotonia
  • Muscular hypotonia
  • Motor delay
  • Tremor
  • Hypertonia


SOURCES: OMIM MENDELIAN

More info about HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D; HPABH4D

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

Other less relevant matches:

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

Tatton-Brown-Rahman syndrome is characterized by tall stature, a distinctive facial appearance, and intellectual disability (Tatton-Brown et al., 2014).

TALL STATURE-INTELLECTUAL DISABILITY-FACIAL DYSMORPHISM SYNDROME Is also known as dnmt3a-related overgrowth syndrome|tatton-brown-rahman overgrowth syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about TALL STATURE-INTELLECTUAL DISABILITY-FACIAL DYSMORPHISM SYNDROME

MYOPATHY AND DIABETES MELLITUS Is also known as mitochondrial myopathy, lipid type

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Ataxia
  • Muscle weakness
  • Muscular hypotonia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MYOPATHY AND DIABETES MELLITUS

Neutral lipid storage disease with myopathy is an autosomal recessive muscle disorder characterized by adult onset of slowly progressive proximal muscle weakness affecting the upper and lower limbs and associated with increased serum creatine kinase; distal muscle weakness may also occur. About half of patients develop cardiomyopathy later in the disease course. Other variable features include diabetes mellitus, hepatic steatosis, hypertriglyceridemia, and possibly sensorineural hearing loss. Leukocytes and muscle cells show cytoplasmic accumulation of triglycerides (summary by Reilich et al., 2011).Neutral lipid storage disease with myopathy belongs to a group of disorders termed neutral lipid storage disorders (NLSDs). These disorders are characterized by the presence of triglyceride-containing cytoplasmic droplets in leukocytes and in other tissues, including bone marrow, skin, and muscle. Chanarin-Dorfman syndrome (CDS ) is defined as NLSD with ichthyosis (NLSDI). Patients with NLSDM present with myopathy but without ichthyosis (summary by Fischer et al., 2007).

NEUTRAL LIPID STORAGE MYOPATHY Is also known as neutral lipid storage disease with myopathy without ichthyosis|nlsdm|triglyceride deposit cardiomyovasculopathy|neutral lipid storage disease without ichthyosis

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUTRAL LIPID STORAGE MYOPATHY

Phosphoribosylpyrophosphate synthetase I superactivity is an X-linked inborn error of metabolism in which increased enzyme activity is associated with hyperuricemia and gout. Some affected individuals have neurodevelopmental abnormalities, particularly sensorineural deafness (Becker et al., 1988; Roessler et al., 1993).Although different kinetic defects affecting the PRPS1 enzyme have been identified in this disorder, the common pathway involves increased synthesis of phosphoribosylpyrophosphate (PRPP), which leads to increased uric acid and purine production (Becker, 2001).

PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY Is also known as prps1 superactivity

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY

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.

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

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about DIABETES MELLITUS, PERMANENT NEONATAL; PNDM

Methylmalonic aciduria is a genetically heterogeneous disorder of methylmalonate and cobalamin (cbl; vitamin B12) metabolism. Isolated methylmalonic aciduria is found in patients with mutations in the MUT gene causing partial, mut(-), or complete, mut(0), enzyme deficiency. This form is unresponsive to B12 therapy. Various forms of isolated methylmalonic aciduria also occur in a subset of patients with defects in the synthesis of the MUT coenzyme adenosylcobalamin (AdoCbl) and are classified according to complementation group: cblA (OMIM ), caused by mutation in the MMAA gene (OMIM ) on chromosome 4q31, and cblB (OMIM ), caused by mutation in the MMAB gene (OMIM ) on 12q24.Combined methylmalonic aciduria and homocystinuria may be seen in complementation groups cblC (OMIM ), cblD (OMIM ), and cblF (OMIM ).See the comprehensive review of Ledley (1990).

METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-COA MUTASE DEFICIENCY Is also known as methylmalonic acidemia due to methylmalonyl-coa mutase deficiency mma due to mcm deficiency|methylmalonic aciduria, mut type

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-COA MUTASE DEFICIENCY

Top 5 symptoms//phenotypes associated to Generalized hypotonia and Diabetes mellitus

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Failure to thrive Uncommon - Between 30% and 50% cases
Motor delay Uncommon - Between 30% and 50% cases
Muscular hypotonia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Generalized hypotonia and Diabetes mellitus. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Seizures Cardiomyopathy Hepatomegaly Fatigue Renal insufficiency Peripheral neuropathy Ataxia Type I diabetes mellitus Muscle weakness

Rare Symptoms - Less than 30% cases

Exercise intolerance Premature birth Hearing impairment Anteverted nares Leukopenia Short stature Polyuria Hyperuricemia Vomiting Progressive muscle weakness Low-set ears Macrocephaly Myalgia Clinodactyly Proximal muscle weakness Difficulty walking Sensorineural hearing impairment Myopathy Elevated serum creatine phosphokinase Dehydration Respiratory failure Type II diabetes mellitus Hypomagnesemia Feeding difficulties Thrombocytopenia Abnormality of the nervous system Dystonia Neurological speech impairment Areflexia Recurrent infections Pneumonia Hypertonia Hypertension Anemia Abnormal cardiac septum morphology Growth delay Epicanthus Downturned corners of mouth Abnormality of skeletal muscles Confusion Uric acid nephrolithiasis Strabismus Short nose Ptosis Small for gestational age Flexion contracture Arrhythmia Muscular hypotonia of the trunk Long philtrum Intrauterine growth retardation Hyperactivity Excessive purine production Arnold-Chiari type I malformation Peripheral axonal neuropathy Dysmetria Polyneuropathy Hypsarrhythmia Abnormality of eye movement Convex nasal ridge Hypotelorism Gout Prominent forehead Hypermetropia High-frequency hearing impairment Wide mouth Abnormal aortic morphology Hyperuricosuria Arthritis Increased urinary hypoxanthine Triangular face Mild global developmental delay Progressive neurologic deterioration Ischemic stroke Nephropathy Metabolic acidosis Coma Postural instability Aciduria Pancytopenia Tetraparesis Choreoathetosis Paraparesis Pancreatitis Spastic tetraparesis Hyperammonemia Macrocytic anemia Nausea and vomiting Tubulointerstitial nephritis Ketonuria Delayed CNS myelination Organic aciduria Methylmalonic aciduria Homocystinuria Hyperglycinemia Methylmalonic acidemia Tubulointerstitial abnormality Abnormal globus pallidus morphology Cerebellar hemorrhage Chronic metabolic acidosis Stage 5 chronic kidney disease Lethargy Aspiration Limb joint contracture Failure to thrive in infancy Bilateral ptosis Polydipsia Radial deviation of finger Hyperglycemia Abnormality of the ear Abnormality of the immune system Prominent metopic ridge Ketoacidosis Aspiration pneumonia Progressive proximal muscle weakness Autoimmune antibody positivity Pancreatic hypoplasia Stroke Beta-cell dysfunction Transient neonatal diabetes mellitus Thickened ears Elevated hemoglobin A1c Clinodactyly of the 4th finger Fever Optic atrophy Respiratory insufficiency Respiratory distress Immunodeficiency Acidosis Abnormality of the kidney Increased muscle lipid content Weakness of orbicularis oculi muscle Neck muscle weakness Hypothyroidism Hyperechogenic kidneys Type 2 muscle fiber atrophy Hypochloremic metabolic alkalosis Abnormal facial shape Frontal bossing Diarrhea Splenomegaly Posteriorly rotated ears Proptosis Camptodactyly Alkalosis Autoimmunity Dolichocephaly Malabsorption Asthma Hepatitis Abnormal lung morphology Chronic diarrhea Short chin Abnormal intestine morphology Relative macrocephaly Metabolic alkalosis Renal salt wasting Chronic lung disease Absent speech Tremor Overweight Hyperphenylalaninemia Transient hyperphenylalaninemia Microcephaly Spasticity Delayed speech and language development Myopia Hypoplasia of the corpus callosum Cerebral atrophy Encephalopathy Hyponatremia Myoclonus Cerebral cortical atrophy EEG abnormality Generalized myoclonic seizures Esotropia Optic disc hypoplasia Proteinuria Pulmonary arterial hypertension Ventricular hypertrophy Chronic kidney disease Prominent occiput Interstitial pneumonitis Difficulty running Elevated hepatic transaminase Ragged-red muscle fibers EMG: myopathic abnormalities Mitochondrial myopathy Proximal amyotrophy Peripheral arterial stenosis Decreased activity of mitochondrial complex IV Pain Skeletal muscle atrophy Congestive heart failure Obesity Distal muscle weakness Limb muscle weakness Ichthyosis Hepatic steatosis Waddling gait Hypertriglyceridemia Insulin resistance Fasciculations Hyperlipidemia Easy fatigability Psoriasiform dermatitis Gowers sign Sensory neuropathy Facial palsy Scoliosis Thick eyebrow Hypertelorism Ventricular septal defect Hydrocephalus Atrial septal defect Hernia Mandibular prognathia Polyhydramnios Coarse facial features Umbilical hernia Blepharophimosis Round face Hyporeflexia Overgrowth Tall stature Narrow palpebral fissure Deep philtrum Long palpebral fissure Short columella Maternal diabetes Everted upper lip vermilion Premature rupture of membranes Dysarthria Metabolic ketoacidosis


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