Intellectual disability, severe, and Type II diabetes mellitus

Diseases related with Intellectual disability, severe and Type II diabetes mellitus

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

Top matches:

Alpha-mannosidosis is an autosomal recessive lysosomal storage disease characterized by mental retardation, coarse facial features, skeletal abnormalities, hearing impairment, neurologic motor problems, and immune deficiency. Expression of the disease varies considerably, and there is a wide spectrum of clinical findings and severity. Affected children are often normal at birth and during early development. They present in early childhood with delayed psychomotor development, delayed speech, and hearing loss. Additional features include large head with prominent forehead, rounded eyebrows, flattened nasal bridge, macroglossia, widely spaced teeth, dysostosis multiplex, and motor impairment (summary by Malm and Nilssen, 2008). Classification SystemsTwo classification systems have been used to describe the clinical presentation of alpha-mannosidosis. The earlier system delineated a more severe 'type I,' which shows infantile onset, rapid mental deterioration, hypotonia, splenomegaly, severe dysostosis multiplex, and severe recurrent infections, often resulting in death by age 8 years. Individuals with the less severe 'type II' show normal early development with later childhood development of mental retardation, hearing loss, coarse facies, neurologic deterioration, and survival well into adulthood (summary by Desnick et al., 1976 and Gotoda et al., 1998). A later classification system delineated 3 clinical types. Type 1 is the mildest form, with onset after age 10 years, without skeletal abnormalities and very slow progression. Type 2 is a moderate form, with onset before age 10 years, presence of skeletal abnormalities, and slow progression with development of ataxia by age 20 to 30 years. Type 3 is the severe form, with onset in early infancy, skeletal abnormalities, and obvious progression leading to early death from primary central nervous system involvement or myopathy. Most patients belong to clinical type 2 (summary by Malm and Nilssen, 2008). Despite the clinical heterogeneity of the disorder, there are no apparent genotype/phenotype correlations (Berg et al., 1999; Riise Stensland et al., 2012).

MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA Is also known as alpha-mannosidosis|lysosomal alpha-d-mannosidase deficiency|alpha-mannosidase b deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA

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

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

Other less relevant matches:

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

Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.Hypohidrotic, or anhidrotic, ectodermal dysplasia (HED/EDA) is characterized by a triad of signs comprising sparse hair (hypotrichosis), abnormal or missing teeth (anodontia or hypodontia), and inability to sweat (anhidrosis or hypohidrosis). Typical clinical manifestations also include dryness of the skin, eyes, airways, and mucous membranes presumably due to the defective development of several exocrine glands. Hypohidrotic ectodermal dysplasia can be associated with dysmorphic features (forehead bumps, rings under the eyes, everted nose, and prominent lips) and occasionally with absent nipples. Ectodermal dysplasia-1, due to mutation in the EDA gene, is the most frequent form of hypohidrotic ectodermal dysplasia (summary by Cluzeau et al., 2011).

X-LINKED HYPOHIDROTIC ECTODERMAL DYSPLASIA Is also known as xhed|ectd1|cst syndrome|ed1|christ-siemens-touraine syndrome|eda1|eda|ectodermal dysplasia, anhidrotic, x-linked|ectodermal dysplasia, hypohidrotic, 1|x-linked anhidrotic ectodermal dysplasia|hed1|xlhed|ectodermal dysplasia 1, hypohidrotic/hair/tooth type

Related symptoms:

  • Intellectual disability
  • Feeding difficulties
  • Depressed nasal bridge
  • Hypertension
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED HYPOHIDROTIC ECTODERMAL DYSPLASIA

Medium match MEHMO SYNDROME

MEHMO syndrome is characterised by severe intellectual deficit, epilepsy, microcephaly, hypogenitalism, and obesity. Growth delay and diabetes are also present. To date, it has been described in seven boys, all of whom died within the first two years of life. The causative gene has been localised to the 21.1-22.13p region of the X chromosome and the syndrome appears to result from mitochondrial dysfunction.

MEHMO SYNDROME Is also known as mental retardation, x-linked, syndromic 25|mental retardation, x-linked, syndromic, borck type|x-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome|mrxs25|mrxsbrk|mrxs20|mental retardation, x-linked, syndromic 2

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MEHMO SYNDROME

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2; MSSGM2

Medium match NORRIE DISEASE

Norrie disease (ND) is a rare X-linked genetic vitreoretinal condition characterized by abnormal retinal development with congenital blindness. Common associated manifestations include sensorineural hearing loss and developmental delay, intellectual disability and/or behavioral disorders.

NORRIE DISEASE Is also known as episkopi blindness|norrie-warburg disease|atrophia bulborum hereditaria

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about NORRIE DISEASE

Allan-Herndon-Dudley syndrome (AHDS) is an X-linked intellectual disability syndrome with neuromuscular involvement characterized by infantile hypotonia, muscular hypoplasia, spastic paraparesis with dystonic/athetoic movements, and severe cognitive deficiency.

ALLAN-HERNDON-DUDLEY SYNDROME Is also known as x-linked intellectual disability-hypotonia syndrome|t3 resistance|allan-herndon syndrome|triiodothyronine resistance|monocarboxylate transporter 8 deficiency|mct8 deficiency|mental retardation and muscular atrophy|mental retardation, x-linked, with hypoto

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ALLAN-HERNDON-DUDLEY SYNDROME

Hyperinsulism due to glucokinase deficiency (HIGCK) is a form of diazoxide-sensitive diffuse hyperinsulinism (see this term), caused by a lowered threshold for insulin release, characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae.

HYPERINSULINISM DUE TO GLUCOKINASE DEFICIENCY Is also known as hyperinsulinemic hypoglycemia due to glucokinase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Muscle weakness
  • Fatigue
  • Diabetes mellitus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HYPERINSULINISM DUE TO GLUCOKINASE DEFICIENCY

Top 5 symptoms//phenotypes associated to Intellectual disability, severe and Type II diabetes mellitus

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Muscular hypotonia Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Intellectual disability, severe and Type II diabetes mellitus. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Spasticity Macrotia Hyperreflexia Nystagmus Diabetes mellitus Microcephaly Motor delay Cryptorchidism Micrognathia Delayed puberty Downturned corners of mouth Intrauterine growth retardation Abnormal facial shape Scoliosis Delayed speech and language development Hearing impairment Muscle weakness Generalized hypotonia Depressed nasal bridge Epicanthus Feeding difficulties Ataxia Strabismus Psychosis Prominent forehead Babinski sign Recurrent respiratory infections Gait ataxia Hyperactivity Autism Hypoglycemia Respiratory tract infection Full cheeks Abnormality of the nervous system Malar flattening Attention deficit hyperactivity disorder Hypoplasia of the corpus callosum Failure to thrive Sensorineural hearing impairment Myopia Short stature Dysarthria Talipes equinovarus Ventriculomegaly Aggressive behavior Type I diabetes mellitus Absent speech Abnormality of the dentition Behavioral abnormality

Rare Symptoms - Less than 30% cases

Abnormality of the pinna Clonus Abnormality of the helix Neonatal hypotonia Increased vertebral height Intellectual disability, progressive Narrow mouth Hyporeflexia Weight loss Micropenis Pain Hypogonadism Upslanted palpebral fissure Obesity Short nose Neoplasm Protruding ear Hypertension Fever Hypotelorism Recurrent hypoglycemia Tetraparesis Narrow nasal bridge Hypertonia Central hypotonia Abdominal obesity Long philtrum Sloping forehead Spastic tetraparesis External genital hypoplasia Maternal diabetes Retinopathy Thick vermilion border Coma Sparse hair Hyperglycemia EEG abnormality Small for gestational age Polymicrogyria Hypothyroidism Tapered finger Sleep disturbance Growth hormone deficiency Narrow forehead Decreased fetal movement Bowel incontinence Pectus excavatum Severe global developmental delay Drooling Open mouth Hyperinsulinemia Round face Inability to walk Long face Neurodevelopmental delay Irritability Anxiety Confusion Myopathy Intellectual disability, mild Kyphosis Hallucinations Depressed nasal ridge Hip dysplasia Delayed myelination Retinal degeneration Dysmetria Frontal bossing Delayed skeletal maturation Genu valgum Abnormality of the foot Cataract Hypermetropia Kyphoscoliosis Osteopenia Corneal opacity Cognitive impairment Immunodeficiency Widely spaced teeth Optic atrophy Prominent supraorbital ridges Skeletal muscle atrophy Gait disturbance Cleft lip Lactic acidosis Poor speech Hypotrichosis Dry skin Rotary nystagmus Short distal phalanx of finger Ectodermal dysplasia Muscular hypotonia of the trunk Abnormality of the autonomic nervous system Increased thyroid-stimulating hormone level Prominent antihelix Abnormal conjugate eye movement Difficulty walking Acidosis Hypospadias Stahl ear Fasting hyperinsulinemia Cleft palate Hypoplasia of the musculature Respiratory distress Hyperhidrosis Agitation Macroorchidism Tremor Downslanted palpebral fissures Tall chin Birth length less than 3rd percentile Male hypogonadism Large earlobe Depressed nasal tip Abnormality of the neck Aplasia/Hypoplastia of the eccrine sweat glands Pancreatitis Progressive microcephaly Neonatal insulin-dependent diabetes mellitus Lower limb spasticity Delayed CNS myelination Hypoplasia of penis Contractures of the joints of the lower limbs Reduced pancreatic beta cells Broad nasal tip Hypoplastic-absent sebaceous glands Periorbital wrinkles Periorbital hyperpigmentation Hypodontia Absent eyebrow Brittle hair Dysphonia Sparse eyelashes Short chin Hand tremor Hypoplasia of the maxilla Hyperinsulinemic hypoglycemia Hoarse voice Aplasia/Hypoplasia of the eyebrow Hypoketotic hypoglycemia Sparse and thin eyebrow Hypoglycemic seizures Hypohidrosis Thin skin Sparse scalp hair Hypoglycemic coma Eczema Microdontia Anhidrosis Agenesis of permanent teeth Underfolded superior helices Anterior hypopituitarism Underdeveloped nasal alae Everted upper lip vermilion Abnormal oral mucosa morphology Hypohidrotic ectodermal dysplasia Anhidrotic ectodermal dysplasia Fatigue Absent nipple Everted lower lip vermilion Concave nail Hypoplasia of the zygomatic bone Sparse body hair Conical tooth Heat intolerance Anodontia Taurodontia Soft skin Absent eyelashes Delayed eruption of teeth Rhinitis Hypoplastic nipples Dystonia Abnormal vertebral morphology Hyperlordosis Self-injurious behavior Retinal dysplasia Vitreoretinopathy Sclerocornea Abnormality of the vasculature Hypoplasia of the iris Severe vision loss Abnormality of immune system physiology Pes planus Abnormal retinal morphology Aplasia/Hypoplasia of the cerebellum Ectopia lentis Abnormal pupil morphology Cachexia Progressive hearing impairment Feeding difficulties in infancy Opacification of the corneal stroma Joint stiffness Stereotypy Intellectual disability, profound Migraine Camptodactyly of finger Spastic paraplegia Abnormality of the retinal vasculature Anterior synechiae of the anterior chamber Paraplegia Corneal degeneration Ptosis Vascular neoplasm Anterior chamber synechiae Proptosis Neoplasm of the eye Uterine rupture Aplasia/Hypoplasia of the lens Abnormal cochlea morphology Retinopathy of prematurity Abnormality of the diencephalon Abnormal vitreous humor morphology Venous insufficiency Posterior synechiae of the anterior chamber Phthisis bulbi Erectile abnormalities Leukocoria Abnormal chorioretinal morphology Shallow anterior chamber Exudative vitreoretinopathy Remnants of the hyaloid vascular system Retinal fold Retinoblastoma Abnormality of movement Hypovolemia Hyperactive deep tendon reflexes Polyuria Blindness Visual impairment Kinetic tremor Prominent superficial veins Down-sloping shoulders Ketoacidosis Myopathic facies High pitched voice Brisk reflexes Hallux valgus Hypoplasia of the brainstem Visual loss Aphasia Polydipsia Oligodontia Generalized amyotrophy Truncal ataxia Flexion contracture Fine hair Renal hypoplasia Biparietal narrowing Blue sclerae Microphthalmia Athetosis Tetraplegia Deeply set eye Retinal detachment Generalized muscle weakness Urinary incontinence Increased serum lactate Thin vermilion border Cerebral calcification Spastic tetraplegia Interphalangeal joint contracture of finger Developmental regression Abnormality of the eye Choreoathetosis CNS hypomyelination Cerebral cortical atrophy Involuntary movements Leukodystrophy Abnormality of nervous system physiology Glaucoma Narrow face Bilateral single transverse palmar creases Muscle stiffness Poor head control Myoclonus Dementia Pancreatic hypoplasia Ocular albinism Microalbuminuria Hydrocele testis Cranial hyperostosis Vacuolated lymphocytes Thoracolumbar kyphosis Abnormal echocardiogram Synovitis Abnormal cornea morphology Abnormality of the rib cage Craniofacial hyperostosis Spondylolisthesis Reduced ejection fraction Dysostosis multiplex Long ear Impaired smooth pursuit Delusions Patellar dislocation Severe sensorineural hearing impairment Aseptic necrosis Limb dystonia Bronchitis Thickened calvaria Abnormality of the sternum Femoral bowing Open bite Abnormality of the gingiva Retinal thinning Flat occiput Synovial hypertrophy Osteoporosis Clinodactyly Dilatation Syndactyly Congestive heart failure Vomiting Edema High palate Spinocerebellar tract disease in lower limbs Flattened moderately deformed vertebrae Progressive joint destruction Cerebral dysmyelination Abnormality of dental structure Antineutrophil antibody positivity Abnormality of joint mobility Abnormality of the ilium Hypoplastic inferior ilia Decreased pulmonary function Generalized abnormality of skin Increased hepatic glycogen content Spondylolysis Oligosacchariduria Synostosis of joints Bowing of the legs Heart murmur Thin upper lip vermilion Depressivity Pectus carinatum Mental deterioration Arthritis Hepatosplenomegaly Umbilical hernia Coarse facial features Skeletal dysplasia Mandibular prognathia Inguinal hernia Areflexia Hernia Neurological speech impairment Midface retrusion Recurrent infections Cerebral atrophy Splenomegaly Cerebellar atrophy Hydrocephalus Short neck Abnormality of the skeletal system Macrocephaly Hepatomegaly Hypertelorism Broad forehead Abnormality of the cerebral white matter Chronic otitis media Progressive neurologic deterioration Increased intracranial pressure Recurrent bacterial infections Narrow palate Low anterior hairline Spastic gait Limb ataxia Gingival overgrowth Amblyopia Tall stature Bowing of the long bones Hypertrichosis Thick eyebrow Pancytopenia Optic disc pallor Peripheral demyelination Otitis media Decreased antibody level in blood Dental malocclusion Gliosis Progressive cerebellar ataxia Macroglossia Neurodegeneration Highly arched eyebrow Respiratory failure Photophobia Abnormality of the upper urinary tract Frontal upsweep of hair Almond-shaped palpebral fissure Hypopnea Narrow palm Psychotic episodes Hypoplastic labia minora Central adrenal insufficiency Temperature instability Triangular mouth Disseminated intravascular coagulation Erysipelas Clitoral hypoplasia Acromicria Anteverted ears Poor fine motor coordination Cor pulmonale Generalized hypopigmentation Hypothermia Chromosome breakage Hypoplasia of the fovea Acrocyanosis Oligomenorrhea Overweight Abnormality of lipid metabolism Poor gross motor coordination Wide nasal bridge Hypoventilation Arthrogryposis multiplex congenita Autoimmune antibody positivity Ketonuria Renal tubular dysfunction Prominent metopic ridge Glycosuria Bilateral ptosis Apraxia Dehydration Generalized myoclonic seizures Peripheral axonal neuropathy Generalized tonic-clonic seizures Cerebellar hypoplasia Abnormal heart morphology Schizencephaly Abnormal corpus callosum morphology Cortical gyral simplification Impulsivity Lissencephaly Pachygyria Heterotopia Hemiparesis Thick lower lip vermilion Intellectual disability, moderate Iris hypopigmentation Hypopigmentation of hair Apnea Gastrointestinal hemorrhage Insulin resistance Clumsiness Primary amenorrhea Cutaneous photosensitivity Oligohydramnios Abnormality of the cardiovascular system Amenorrhea Specific learning disability Febrile seizures Esotropia Sepsis Aortic valve stenosis Hypopigmentation of the skin Short foot Small hand Short palm Arachnodactyly Infertility Carious teeth Pruritus Dolichocephaly Leukemia Stroke Bradycardia Increased body weight Pulmonary embolism Large hands Striae distensae Impaired pain sensation Myeloid leukemia Polyphagia Truncal obesity Decreased muscle mass Adrenal insufficiency Skeletal muscle hypertrophy Albinism Glucose intolerance Inflammation of the large intestine Emotional lability Hypogonadotrophic hypogonadism Radial deviation of finger Precocious puberty Failure to thrive in infancy Nasal speech Poor suck Infantile muscular hypotonia Scrotal hypoplasia Sleep apnea Bicuspid aortic valve Narrow palpebral fissure Spontaneous abortion Abnormal C-peptide level


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