Intellectual disability, severe, and Glucose intolerance

Diseases related with Intellectual disability, severe and Glucose intolerance

In the following list you will find some of the most common rare diseases related to Intellectual disability, severe and Glucose intolerance that can help you solving undiagnosed cases.

Top matches:

Prader-Willi syndrome is characterized by diminished fetal activity, obesity, muscular hypotonia, mental retardation, short stature, hypogonadotropic hypogonadism, and small hands and feet. It can be considered to be an autosomal dominant disorder and is caused by deletion or disruption of a gene or several genes on the proximal long arm of the paternal chromosome 15 or maternal uniparental disomy 15, because the gene(s) on the maternal chromosome(s) 15 are virtually inactive through imprinting. Horsthemke and Wagstaff (2008) provided a detailed review of the mechanisms of imprinting of the Prader-Willi/Angelman syndrome (OMIM ) region.See also the chromosome 15q11-q13 duplication syndrome (OMIM ), which shows overlapping clinical features.

PRADER-WILLI SYNDROME; PWS Is also known as prader-labhart-willi syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MENDELIAN

More info about PRADER-WILLI SYNDROME; PWS

Intellectual disability-cataracts-calcified pinnae-myopathy syndrome is a rare, genetic intellectual disability syndrome characterized by macrocephaly, hypotonia, dysmorphic facial features (wide forehead, ptosis, downslanting palpebral fissures, enlarged and calcified external ears, large jaw), sparse body hair, tall stature, and intellectual disability. Hearing loss, insulin-resistant diabetes, and progressive distal muscle wasting (leading to joint contractures) have also been reported in adulthood. Rare manifestations include behavioral abnormalities (aggression and restlessness), hypothyroidism, cerebral calcification, ataxia, and peripheral neuropathy.

INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY SYNDROME Is also known as primrose syndrome|ossified ear cartilages with mental deficiency, muscle wasting, and bony changes

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY SYNDROME

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Ataxia
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about POLYENDOCRINE-POLYNEUROPATHY SYNDROME

Other less relevant matches:

Gyrate atrophy of the choroid and retina (GACR) is a very rare, inherited retinal dystrophy, characterized by progressive chorioretinal atrophy, myopia and early cataract.

GYRATE ATROPHY OF CHOROID AND RETINA Is also known as ornithine-delta-aminotransferase deficiency|hoga|hyperornithinemia-gyrate atrophy of choroid and retina syndrome|gyrate atrophy|oat deficiency|ornithine aminotransferase deficiency|hyperornithinemia|ornithine keto acid aminotransferase deficiency|okt defi

Related symptoms:

  • Intellectual disability
  • Cataract
  • Delayed speech and language development
  • Myopia
  • Blindness


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about GYRATE ATROPHY OF CHOROID AND RETINA

Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hepatomegaly
  • Brachydactyly
  • Abnormality of the skeletal system


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY; SRTD10

Renal cysts and diabetes syndrome (RCAD) is a rare form of maturity-onset diabetes of the young (MODY; see this term) characterized clinically by heterogeneous cystic renal disease and early-onset familial non-autoimmune diabetes. Pancreatic atrophy, liver dysfunction and genital tract anomalies are also features of the syndrome.

RENAL CYSTS AND DIABETES SYNDROME Is also known as renal dysfunction-early-onset diabetes syndrome|mody5|fjhn, atypical|cakut with diabetes|maturity-onset diabetes of the young, type 5|renal cysts-maturity-onset diabetes of the young syndrome|congenital anomalies of the kidney and urinary tract with diabe

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about RENAL CYSTS AND DIABETES SYNDROME

Congenital fiber-type disproportion (CFTD) myopathy is a genetically heterogeneous disorder in which there is relative hypotrophy of type 1 muscle fibers compared to type 2 fibers on skeletal muscle biopsy. However, these findings are not specific and can be found in many different myopathic and neuropathic conditions. Clarke and North (2003) stated that the diagnosis of 'congenital fiber-type disproportion' as a disease entity is one of exclusion. They also suggested that the nonspecific histologic findings should be termed 'fiber size disproportion,' thus reserving the term CFTD for those cases in which no secondary cause can be found.

MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION; CFTD Is also known as cftdm|fiber-type disproportion myopathy, congenital

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION; CFTD

High match LEPRECHAUNISM

Leprechaunism is a congenital form of extreme insulin resistance (a group of syndromes that also includes Rabson-Mensenhall syndrome, type A insulin-resistance syndrome, and acquired type B insulin-resistance syndrome; see these terms) characterized by intrauterine and mainly postnatal severe growth retardation.

LEPRECHAUNISM Is also known as donohue syndrome|leprechaunism

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Growth delay
  • Hypertelorism


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about LEPRECHAUNISM

This autosomal recessive systemic autoinflammatory disorder is characterized by early childhood onset of annular erythematous plaques on the face and extremities with subsequent development of partial lipodystrophy and laboratory evidence of immune dysregulation. More variable features include recurrent fever, severe joint contractures, muscle weakness and atrophy, hepatosplenomegaly, basal ganglia calcifications, and microcytic anemia (summary by Agarwal et al., 2010; Kitamura et al., 2011; Arima et al., 2011).This disorder encompasses Nakajo-Nishimura syndrome (NKJO); joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy (JMP syndrome); and chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome (CANDLE). Among Japanese patients, this disorder is best described as Nakajo-Nishimura syndrome, since both Nakajo (1939) and Nishimura et al. (1950) contributed to the original phenotypic descriptions. Genetic Heterogeneity of Proteasome-Associated Autoinflammatory SyndromeSee also PRAAS2 (OMIM ), caused by mutation in the POMP gene (OMIM ) on chromosome 13q12, and PRAAS3 (OMIM ), caused by mutation in the PSMB4 gene (OMIM ) on chromosome 1q21.

PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1; PRAAS1 Is also known as chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome|candle|joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy|autoinflammation, lipodystrophy, and dermatosis syndrome|n

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Failure to thrive
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1; PRAAS1

Progressive external ophthalmoplegia is characterized by multiple mitochondrial DNA deletions in skeletal muscle. The most common clinical features include adult onset of weakness of the external eye muscles and exercise intolerance. Additional symptoms are variable, and may include cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism. Both autosomal dominant and autosomal recessive inheritance can occur; autosomal recessive inheritance is usually more severe (Filosto et al., 2003; Luoma et al., 2004).PEO caused by mutation in the POLG gene is associated with more complicated phenotypes than those forms caused by mutation in the ANT1 or C10ORF2 genes (Lamantea et al., 2002). Genetic Heterogeneity of Autosomal Dominant Progressive External Ophthalmoplegia with DNA DeletionsSee also PEOA2 (OMIM ), caused by mutation in the ANT1 gene (SLC25A4 ) on chromosome 4q34; PEOA3 (OMIM ), caused by mutation in the twinkle gene (C10ORF2 ) on chromosome 10q24; PEOA4 (OMIM ), caused by mutation in the POLG2 gene (OMIM ) on chromosome 17q; PEOA5 (OMIM ), caused by mutation in the RRM2B gene (OMIM ) on chromosome 8q23; and PEOA6 (OMIM ), caused by mutation in the DNA2 gene (OMIM ) on chromosome 10q.

AUTOSOMAL DOMINANT PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA Is also known as progressive external ophthalmoplegia, autosomal dominant 1|adpeo

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA

Top 5 symptoms//phenotypes associated to Intellectual disability, severe and Glucose intolerance

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Short stature Common - Between 50% and 80% cases
Diabetes mellitus Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Skeletal muscle atrophy Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Intellectual disability, severe and Glucose intolerance. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Failure to thrive Hypothyroidism Intellectual disability, mild Cryptorchidism Hearing impairment Ataxia Osteopenia Myopathy Growth delay Hypogonadism Generalized hypotonia Global developmental delay Genu valgum Insulin resistance Hyperinsulinemia Hypoglycemia Macrotia Cataract Flexion contracture Pes cavus Thick lower lip vermilion Proximal muscle weakness Dysphagia Respiratory insufficiency Muscle weakness Elevated hepatic transaminase Abnormality of the liver Hirsutism Osteoporosis Ptosis Scoliosis Cognitive impairment Edema Abnormal facial shape

Rare Symptoms - Less than 30% cases

Behavioral abnormality Feeding difficulties Delayed speech and language development Arrhythmia Gait ataxia Adipose tissue loss High palate Areflexia Abnormal pyramidal sign Congenital cataract Bradykinesia Gynecomastia Hypergonadotropic hypogonadism Kyphosis Hydrocephalus Hypertonia Spastic paraparesis Abnormality of the skeletal system Gait disturbance Motor delay Peripheral neuropathy Depressed nasal bridge Anemia Myopia Striae distensae Truncal obesity Decreased muscle mass Fever Large hands Intrauterine growth retardation Paraparesis Basal ganglia calcification Hypermelanotic macule Ophthalmoplegia Glycosuria Arthritis Neoplasm Chronic kidney disease Hepatic fibrosis Cholestasis Stage 5 chronic kidney disease Renal insufficiency Splenomegaly Micrognathia Hepatomegaly Facial palsy Dilated cardiomyopathy Limb muscle weakness Infantile muscular hypotonia Retinal degeneration Nyctalopia Pain Visual loss Atrial fibrillation Blindness Progressive muscle weakness Postnatal growth retardation Hyperglycemia Dysarthria Postprandial hyperglycemia Abnormal glucose tolerance Recurrent infections Insulin-resistant diabetes mellitus Precocious puberty Babinski sign Amenorrhea Abnormality of the dentition Downturned corners of mouth Type II diabetes mellitus Primary amenorrhea Respiratory failure Clumsiness Hyporeflexia Congestive heart failure Obesity Hip dysplasia Autism Neonatal hypotonia Infertility Ventriculomegaly Decreased fetal movement Recurrent respiratory infections Narrow mouth Difficulty running Centrally nucleated skeletal muscle fibers Weak cry Nemaline bodies Mitochondrial myopathy Congenital hip dislocation Bulbar palsy Multiple joint contractures Ketosis Facial diplegia Respiratory insufficiency due to muscle weakness Spinal deformities Narrow face Hypomimic face Shoulder girdle muscle weakness Reduced ejection fraction Lumbar hyperlordosis Limb joint contracture Pigmentary retinopathy Progressive external ophthalmoplegia Wide mouth Generalized hirsutism Gingival overgrowth Hypertrichosis Epidermal acanthosis Nail dysplasia Secondary amenorrhea Abdominal distention High, narrow palate Thick vermilion border Small for gestational age Hyperthyroidism Feeding difficulties in infancy Type 1 fibers relatively smaller than type 2 fibers Low-set, posteriorly rotated ears Umbilical hernia Proptosis Hyperkeratosis Severe short stature Delayed skeletal maturation Inguinal hernia Hernia Gonadal dysgenesis Low-set ears Hypertelorism Microcephaly Bipolar affective disorder Lower limb muscle weakness Absent Achilles reflex Renal cell carcinoma Gastroparesis Uterus didelphys Pancreatic hypoplasia Ureteropelvic junction obstruction Biliary tract abnormality Maturity-onset diabetes of the young Bicornuate uterus Elevated serum creatinine Gout Exocrine pancreatic insufficiency Proportionate short stature Reduced sperm motility Acute kidney injury Muscle fiber necrosis Hyperuricemia Glomerulopathy Quadriceps muscle weakness Cytochrome C oxidase-negative muscle fibers Impaired distal vibration sensation Hypoplasia of the uterus Unilateral renal agenesis Polydipsia Pyloric stenosis Renal Fanconi syndrome Renal cortical cysts Waddling gait Nocturia Generalized muscle weakness Long face Cutis laxa Skeletal myopathy Abnormality of the mitochondrion Subsarcolemmal accumulations of abnormally shaped mitochondria Muscular dystrophy Muscular hypotonia of the trunk Joint laxity Testicular atrophy Cardiomyopathy Progressive ophthalmoplegia Multiple glomerular cysts Parkinsonism with favorable response to dopaminergic medication Abnormality of alkaline phosphatase activity Atretic vas deferens Abnormality of endocrine pancreas physiology Cogwheel rigidity Abnormality of exocrine pancreas physiology Aplasia/Hypoplasia of the pancreas Decreased numbers of nephrons Papillary cystadenoma of the epididymis Epididymal cyst Absent vas deferens Acanthosis nigricans Exertional dyspnea Cachexia Myositis Finger swelling Stiff skin Episcleritis Panniculitis Erythema nodosum Hypochromic anemia Flexion contracture of toe Generalized lipodystrophy Immune dysregulation Clubbing of fingers Abnormally large globe Rimmed vacuoles Visual impairment Microcytic anemia Elevated erythrocyte sedimentation rate Long fingers Increased antibody level in blood Lipodystrophy Growth abnormality Conjunctivitis Elbow flexion contracture Lymphopenia Bone pain Hyperpigmentation of the skin Sensorineural hearing impairment Tremor Cardiomegaly Lethargy Migraine Parkinsonism Muscle cramps Coma Sensory neuropathy Abnormality of extrapyramidal motor function Lactic acidosis Peripheral axonal neuropathy Abnormality of eye movement Palpitations Impaired distal proprioception Retinopathy Fatigue Anxiety Myalgia Rigidity Gastroesophageal reflux Frequent falls Left ventricular hypertrophy Acidosis Constipation Elevated serum creatine phosphokinase Depressivity Cerebellar atrophy Hypertriglyceridemia Prominent nose Clitoral hypertrophy Concave nasal ridge Elfin facies Sensory axonal neuropathy Female pseudohermaphroditism Absence of subcutaneous fat Pancreatic islet-cell hyperplasia Abnormality of the abdominal wall Thick nasal alae Long penis Fasting hypoglycemia Ovarian cyst Small face Long foot Prominent nipples Difficulty climbing stairs Hypokinesia Severe failure to thrive Thickened nuchal skin fold Hearing abnormality Resting tremor Severe intrauterine growth retardation Lipoatrophy Increased serum lactate Reduced subcutaneous adipose tissue Rhabdomyolysis Increased variability in muscle fiber diameter Asymmetry of the breasts Macroglossia Ragged-red muscle fibers Multiple mitochondrial DNA deletions Acute rhabdomyolysis Horseshoe kidney Cerebral visual impairment Sensorimotor neuropathy Exercise intolerance Inability to walk Lymphadenopathy External ophthalmoplegia Skin rash Camptodactyly of finger EMG: myopathic abnormalities Thrombocytopenia Scarring Erythema Hepatosplenomegaly Arthralgia Ventricular arrhythmia Goiter Hyperhidrosis Easy fatigability Dysphonia Premature ovarian insufficiency Abnormality of mitochondrial metabolism Ophthalmoparesis Multicystic kidney dysplasia Muscle fiber atrophy Nephrolithiasis Myeloid leukemia Hypoplasia of the fovea Acrocyanosis Oligomenorrhea Overweight Central hypotonia Abnormality of lipid metabolism Iris hypopigmentation Hypoventilation Hypopigmentation of hair Pulmonary embolism Impaired pain sensation Narrow nasal bridge Ocular albinism Polyphagia External genital hypoplasia Adrenal insufficiency Skeletal muscle hypertrophy Albinism Inflammation of the large intestine Emotional lability Radial deviation of finger Failure to thrive in infancy Nasal speech Poor suck Scrotal hypoplasia Chromosome breakage Hypothermia Bicuspid aortic valve Narrow palm Midface retrusion Microphthalmia Malar flattening Hypoplasia of the corpus callosum Anteverted nares Downslanted palpebral fissures Macrocephaly Acromicria Poor gross motor coordination Almond-shaped palpebral fissure Hypopnea Psychotic episodes Generalized hypopigmentation Hypoplastic labia minora Central adrenal insufficiency Temperature instability Triangular mouth Disseminated intravascular coagulation Erysipelas Frontal upsweep of hair Clitoral hypoplasia Anteverted ears Poor fine motor coordination Abdominal obesity Cor pulmonale Sleep apnea Narrow palpebral fissure Agenesis of corpus callosum Hyperactivity Leukemia Stroke Attention deficit hyperactivity disorder Respiratory tract infection Abnormality of the pinna Apnea Abnormality of the nervous system Photophobia Thin upper lip vermilion Weight loss Micropenis Upslanted palpebral fissure Pruritus Prominent forehead Clinodactyly Dilatation Syndactyly Short nose Vomiting Talipes equinovarus Epicanthus Hypertension Muscular hypotonia Strabismus Nystagmus Dolichocephaly Hypermetropia Spontaneous abortion Growth hormone deficiency Hypogonadotrophic hypogonadism Increased body weight Aortic valve stenosis Bradycardia Cutaneous photosensitivity Psychosis Oligohydramnios Narrow forehead Abnormality of the cardiovascular system Specific learning disability Febrile seizures Esotropia Carious teeth Gastrointestinal hemorrhage Full cheeks Sepsis Hypopigmentation of the skin Sleep disturbance Tapered finger Short foot Small hand Short palm Polymicrogyria Arachnodactyly Delayed puberty Pectus excavatum Brachycephaly Renal dysplasia Posterior subcapsular cataract Hepatic failure Oral cleft Cleft lip Polydactyly Respiratory distress Ventricular septal defect Brachydactyly Hyperornithinemia Ornithinuria Hyperlysinuria Chorioretinal degeneration Retinal atrophy Retinal dystrophy Subcapsular cataract Chorioretinal atrophy Hyperammonemia EMG abnormality Abnormality of the eye EEG abnormality Abnormality of metabolism/homeostasis Central hypothyroidism Progressive hearing impairment Type I diabetes mellitus Polyneuropathy Intellectual disability, moderate Postaxial polydactyly Postaxial hand polydactyly Dystonia Hypospadias Renal hypoplasia Renal agenesis Renal cyst Hepatic steatosis Nephropathy Joint hyperflexibility Abnormality of the kidney Proteinuria Jaundice Mandibular prognathia Cerebral cortical atrophy Lateral clavicle hook Cerebellar vermis hypoplasia Thoracic dysplasia Cone-shaped epiphyses of the phalanges of the hand Bell-shaped thorax Nephronophthisis Visual field defect Thoracic hypoplasia Cone-shaped epiphysis Short long bone Oculomotor apraxia Short ribs Rhizomelia Short phalanx of finger Cerebellar hypoplasia Superiorly displaced ears Deeply set eye Otitis media Self-injurious behavior Schizophrenia Abnormal palate morphology Plagiocephaly Osteolysis Knee flexion contracture Clonus Thickened skin Abnormal form of the vertebral bodies Sparse scalp hair Cerebral calcification Nevus Bilateral cryptorchidism Hypoplasia of the maxilla Neurodegeneration Short distal phalanx of finger Distal amyotrophy Narrow chest Synophrys Broad forehead Prominent nasal bridge Protruding ear Developmental regression Aggressive behavior Conductive hearing impairment Melanocytic nevus Metatarsus adductus Calcification of the auricular cartilage Generalized osteoporosis Increased size of the mandible Absent facial hair Posterior scalloping of vertebral bodies Torus palatinus Motor tics Basilar impression Absent axillary hair Posterior polar cataract Narrow iliac wings Ectopic calcification Recurrent ear infections Bone cyst Tics Anonychia Dystrophic fingernails Broad face Progressive gait ataxia Thoracic kyphosis Poor coordination Irregular vertebral endplates Restlessness Hip contracture Congenital hypothyroidism Sparse body hair Ankle clonus Mixed hearing impairment Focal white matter lesions


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Arthritis and Pes cavus, related diseases and genetic alterations