Cognitive impairment, and Hypothyroidism
Diseases related with Cognitive impairment and Hypothyroidism
In the following list you will find some of the most common rare diseases related to Cognitive impairment and Hypothyroidism that can help you solving undiagnosed cases.
Top matches:
GNE myopathy is a rare autosomal recessive distal myopathy characterized by early adult-onset, slowly to moderately progressive distal muscle weakness that preferentially affects the tibialis anterior muscle and that usually spares the quadriceps femoris. Muscle biopsy reveals presence of rimmed vacuoles.
GNE MYOPATHY Is also known as nonaka myopathy|ibm2|distal myopathy, nonaka type|hibm2|dmrv|distal myopathy with rimmed vacuoles|hereditary inclusion body myopathy type 2|quadriceps-sparing myopathy|inclusion body myopathy type 2
Related symptoms:
- Muscle weakness
- Skeletal muscle atrophy
- Cardiomyopathy
- Myopathy
- Elevated serum creatine phosphokinase
SOURCES:
ORPHANET
OMIM
MENDELIAN
More info about GNE MYOPATHY
Intellectual disability-strabismus syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by moderate to severe intellectual disability and esotropia. Other associated features may include growth failure (underweight, failure to thrive, short stature), microcephaly, tone abnormalities (hypotonia, spasticity), epilepsy, behavioral problems (hyperactivity, aggressiveness), and/or abnormal brain morphology, including arachnoid cyst, cerebral atrophy, mild ventriculomegaly, abnormal CNS myelination or corpus callosum agenesis.
Related symptoms:
- Intellectual disability
- Generalized hypotonia
- Microcephaly
- Growth delay
- Hypertelorism
SOURCES:
ORPHANET
OMIM
MENDELIAN
More info about INTELLECTUAL DISABILITY-STRABISMUS SYNDROME
Aceruloplasminemia is an adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by anemia, retinal degeneration, diabetes and various neurological symptoms.
ACERULOPLASMINEMIA Is also known as hereditary ceruloplasmin deficiency
Related symptoms:
- Ataxia
- Spasticity
- Cognitive impairment
- Anemia
- Delayed speech and language development
SOURCES:
OMIM
ORPHANET
MENDELIAN
More info about ACERULOPLASMINEMIA
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Other less relevant matches:
ANE syndrome is a rare, genetic, neuro-endocrino-cutaneous disorder characterized by highly variable degrees of alopecia, moderate to severe intellectual disability, progressive, late-onset motor deterioration and combined anterior pituitary hormone deficiency, manifesting with central hypogonadotropic hypogonadism, delayed or absent puberty, growth hormone deficiency (resulting in short stature), progressive central adrenal insufficiency and a hypoplastic anterior pituitary gland. Additional features include hypodontia, flexural reticulate hyperpigmentation, gynecomastia, microcephaly and kyphoscoliosis.
ANE SYNDROME Is also known as ane syndrome|alopecia-progressive neurological defect-endocrinopathy syndrome
Related symptoms:
- Intellectual disability
- Short stature
- Microcephaly
- Flexion contracture
- Skeletal muscle atrophy
SOURCES:
ORPHANET
MESH
OMIM
MENDELIAN
More info about ANE SYNDROME
Wolfram-like syndrome is a rare endocrine disease characterized by the triad of adult-onset diabetes mellitus, progressive hearing loss (usually presenting in the first decade of life and principally of low to moderate frequencies), and/or juvenile-onset optic atrophy. Psychiatric (i.e. anxiety, depression, hallucinations) and sleep disorders, the only neurologic abnormalities observed in this disease, have been reported in rare cases. Unlike Wolfram syndrome, patients with Wolfram-like syndrome do not report endocrine or cardiac findings.
WOLFRAM-LIKE SYNDROME Is also known as hearing loss, progressive, with optic atrophy and/or impaired glucose regulation
Related symptoms:
- Hearing impairment
- Ataxia
- Sensorineural hearing impairment
- Visual impairment
- Peripheral neuropathy
SOURCES:
MESH
OMIM
ORPHANET
MENDELIAN
More info about WOLFRAM-LIKE SYNDROME
Oliver-McFarlane syndrome is a rare congenital disorder characterized by trichomegaly, severe chorioretinal atrophy and multiple pituitary hormone deficiencies, including growth hormone (GH ), gonadotropins (see {118860}), and thyroid-stimulating hormone (TSH; see {118850}). Thyroid and GH abnormalities may be present at birth and, if untreated, result in intellectual impairment and profound short stature. Congenital hypogonadism occurs in half of patients, and nearly all have documented hypogonadotropic hypogonadism during puberty, with subsequent reproductive dysfunction. Chorioretinal atrophy is typically noted in the first 5 years of life. Half of reported cases have spinocerebellar involvement, including ataxia, spastic paraplegia, and peripheral neuropathy (summary by Hufnagel et al., 2015).Laurence-Moon syndrome (OMIM ) is an allelic disorder with overlapping features.
OLIVER-MCFARLANE SYNDROME; OMCS Is also known as eyelashes, long, with mental retardation|trichomegaly with mental retardation, dwarfism, and pigmentary degeneration of retina
Related symptoms:
- Intellectual disability
- Short stature
- Ataxia
- Growth delay
- Nystagmus
SOURCES:
OMIM
MENDELIAN
More info about OLIVER-MCFARLANE SYNDROME; OMCS
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a rare neurodegenerative disorder characterized by adult-onset progressive intention tremor and gait ataxia.
FRAGILE X-ASSOCIATED TREMOR/ATAXIA SYNDROME Is also known as fxtas syndrome
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Hearing impairment
- Ataxia
SOURCES:
MESH
OMIM
ORPHANET
MENDELIAN
More info about FRAGILE X-ASSOCIATED TREMOR/ATAXIA SYNDROME
Gabriele-de Vries syndrome is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, variable cognitive impairment, often with behavioral problems, feeding problems, some movement abnormalities, and dysmorphic facial features. Affected individuals may also have a variety of congenital abnormalities (summary by Gabriele et al., 2017).
GABRIELE-DE VRIES SYNDROME Is also known as yy1 haploinsufficiency syndrome
Related symptoms:
- Intellectual disability
- Global developmental delay
- Growth delay
- Micrognathia
- Strabismus
SOURCES:
OMIM
ORPHANET
MENDELIAN
More info about GABRIELE-DE VRIES SYNDROME
NPHS14 is an autosomal recessive syndromic form of steroid-resistant nephrotic syndrome with multisystemic manifestations. Most affected individuals present in infancy or early childhood with progressive renal dysfunction associated with focal segmental glomerulosclerosis (FSGS) and resulting in end-stage renal disease within a few years. Other infants present with primary adrenal insufficiency. Some patients present in utero with fetal hydrops and fetal demise. Additional features of the disorder can include ichthyosis, acanthosis, adrenal insufficiency, immunodeficiency, and neurologic defects (summary by Prasad et al., 2017 and Lovric et al., 2017).For a discussion of genetic heterogeneity of nephrotic syndrome and FSGS, see NPHS1 (OMIM ).
FAMILIAL STEROID-RESISTANT NEPHROTIC SYNDROME WITH ADRENAL INSUFFICIENCY Is also known as primary adrenal insufficiency-steroid-resistant nephrotic syndrome due to sgpl1 deficiency
Related symptoms:
- Seizures
- Global developmental delay
- Generalized hypotonia
- Hearing impairment
- Microcephaly
SOURCES:
ORPHANET
OMIM
MENDELIAN
More info about FAMILIAL STEROID-RESISTANT NEPHROTIC SYNDROME WITH ADRENAL INSUFFICIENCY
Top 5 symptoms//phenotypes associated to Cognitive impairment and Hypothyroidism
Symptoms // Phenotype |
% cases |
Intellectual disability |
Common - Between 50% and 80% cases
|
Ataxia |
Uncommon - Between 30% and 50% cases
|
Growth delay |
Uncommon - Between 30% and 50% cases
|
Dementia |
Uncommon - Between 30% and 50% cases
|
Peripheral neuropathy |
Uncommon - Between 30% and 50% cases
|
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Other less frequent symptoms
Patients with Cognitive impairment and Hypothyroidism. may also develop some of the following symptoms:
Uncommon Symptoms - Between 30% and 50% cases
Muscle weakness
Tremor
Strabismus
Abnormal facial shape
Behavioral abnormality
Hypogonadism
Depressivity
Gait ataxia
Delayed puberty
Hearing impairment
Anxiety
Progressive cerebellar ataxia
Cryptorchidism
Global developmental delay
Microcephaly
Short stature
Rare Symptoms - Less than 30% cases
Adrenal insufficiency
Parkinsonism
Delayed speech and language development
Dysarthria
Skeletal muscle atrophy
Dystonia
Diabetes mellitus
Hypoglycemia
Micropenis
Rigidity
Sensorineural hearing impairment
Retinal degeneration
Cerebellar atrophy
Memory impairment
Growth hormone deficiency
Myopathy
Nystagmus
Alopecia
Elevated serum creatine phosphokinase
Peripheral axonal neuropathy
Retinopathy
Joint laxity
Gynecomastia
Pallor
Abnormality of the pinna
Autism
Anemia
Ptosis
Depressed nasal bridge
Horizontal nystagmus
Failure to thrive
Generalized hypotonia
Hypertelorism
Seizures
Ventriculomegaly
Cardiomyopathy
Mental deterioration
Clumsiness
Aggressive behavior
Delayed myelination
Abnormality of the cerebral white matter
Pollakisuria
Abnormality of brainstem morphology
Diffuse cerebellar atrophy
Poor fine motor coordination
Abnormal nerve conduction velocity
Impaired distal vibration sensation
Saccadic smooth pursuit
Dysesthesia
Kinetic tremor
Limb ataxia
Abnormality of movement
Obsessive-compulsive trait
Stroke
Astrocytosis
Retrocollis
Irritability
No permanent dentition
Myalgia
Inertia
Subcortical dementia
Impaired tandem gait
Micrognathia
Thyroid hormone receptor defect
Disinhibition
Bipolar affective disorder
Olivopontocerebellar atrophy
Brain atrophy
Abnormal autonomic nervous system physiology
Paraparesis
Spastic paraparesis
Intention tremor
Dysdiadochokinesis
Premature ovarian insufficiency
Apathy
Obsessive-compulsive behavior
Bradykinesia
Postural tremor
Hypotension
Urinary incontinence
Impotence
Diffuse cerebral atrophy
Abnormal cerebellum morphology
Agitation
Postural instability
Global brain atrophy
Distal sensory impairment
Dysmetria
Bowel incontinence
Abnormality of the thyroid gland
Resting tremor
Atrophy/Degeneration affecting the brainstem
Urinary bladder sphincter dysfunction
Action tremor
Mask-like facies
Delayed eruption of teeth
Long thorax
Primary adrenal insufficiency
Congenital nephrotic syndrome
Steroid-resistant nephrotic syndrome
Wormian bones
Diffuse mesangial sclerosis
Coxa vara
Primary hypothyroidism
Focal segmental glomerulosclerosis
Motor delay
Focal impaired awareness seizure
Hypercholesterolemia
Relative macrocephaly
Glomerulosclerosis
Hypoalbuminemia
Recurrent bacterial infections
Absent testis
Macrocephaly
Lymphopenia
Dilatation
Dry skin
Hip dislocation
Intellectual disability, moderate
Skeletal dysplasia
Constipation
Delayed skeletal maturation
Macroglossia
Talipes equinovarus
Limb undergrowth
Broad-based gait
Omphalocele
Hoarse voice
Increased body weight
Anteverted nares
Congenital hip dislocation
Hypocalcemia
Hypertriglyceridemia
High palate
Posteriorly rotated ears
Gliosis
Congenital hypothyroidism
Facial asymmetry
Broad forehead
Drowsiness
Craniosynostosis
Flat face
Cerebral cortical atrophy
Absent speech
Malar flattening
Abnormality of the dentition
Abnormality of the skeletal system
Downslanted palpebral fissures
Intrauterine growth retardation
Feeding difficulties
Waddling gait
Thick lower lip vermilion
Epidermal acanthosis
Proteinuria
Nephrotic syndrome
Focal-onset seizure
Stage 5 chronic kidney disease
Ichthyosis
Developmental regression
Abnormality of the nervous system
Immunodeficiency
Pointed chin
Edema
Mild intrauterine growth retardation
Lacrimal duct stenosis
Periorbital fullness
Esophageal atresia
Long fingers
Sparse eyebrow
Proximal muscle weakness
Distal muscle weakness
Hyporeflexia
Hyperkinesis
Respiratory distress
Congestive heart failure
Hypertonia
Difficulty walking
Poor speech
Confusion
Cirrhosis
Neurodegeneration
Chorea
Abnormality of extrapyramidal motor function
Involuntary movements
Type I diabetes mellitus
Torticollis
Cerebral palsy
Slurred speech
Spasticity
Polyuria
Muscle fibrillation
Increased serum ferritin
Blepharospasm
Cogwheel rigidity
Scanning speech
Refractory anemia
Decreased serum ceruloplasmin
Elevated hepatic iron concentration
Decreased serum iron
Aceruloplasminemia
Flexion contracture
Intellectual disability, severe
Kyphoscoliosis
Fatigue
Neurodevelopmental delay
Hypodontia
Weakness of long finger extensor muscles
Facial palsy
Lower limb muscle weakness
Foot dorsiflexor weakness
Scapular winging
EMG: myopathic abnormalities
Steppage gait
Increased variability in muscle fiber diameter
Mildly elevated creatine phosphokinase
Rimmed vacuoles
Shoulder girdle muscle weakness
Absent Achilles reflex
Lower limb amyotrophy
Shoulder girdle muscle atrophy
Fatty replacement of skeletal muscle
Limited shoulder movement
Esotropia
Quadriceps muscle weakness
Tibialis muscle weakness
Limited wrist extension
Hip flexor weakness
Muscle fiber inclusion bodies
Abnormality of the foot musculature
EMG: positive sharp waves
EMG: myotonic discharges
Abnormality of the right hemidiaphragm
Epicanthus
Prominent forehead
Upslanted palpebral fissure
Hyperactivity
Telecanthus
Carious teeth
Hyperpigmentation of the skin
Dysphagia
Long eyelashes
Moderate hearing impairment
Frontal bossing
Obesity
Severe short stature
Rod-cone dystrophy
Sparse hair
Small for gestational age
Spastic paraplegia
Paraplegia
Distal amyotrophy
Thick eyebrow
Pigmentary retinopathy
Hypoplasia of penis
Sparse scalp hair
Hypogonadotrophic hypogonadism
Central diabetes insipidus
Sensory axonal neuropathy
Chorioretinal atrophy
Retinal atrophy
Progressive gait ataxia
Recurrent hypoglycemia
Titubation
Alopecia areata
Choroideremia
Long eyebrows
Central heterochromia
Pain
Hypertension
Hyperreflexia
Gait disturbance
Primary gonadal insufficiency
Abnormality of the upper urinary tract
Melanocytic nevus
Ophthalmoplegia
Reduced subcutaneous adipose tissue
Motor deterioration
Upper motor neuron dysfunction
Adrenocorticotropic hormone deficiency
Ulnar deviation of the hand
Central adrenal insufficiency
Ulnar deviation of the hand or of fingers of the hand
Compensated hypothyroidism
Visual impairment
Optic atrophy
Respiratory insufficiency
Visual loss
Glaucoma
Autistic behavior
Bilateral sensorineural hearing impairment
Gastrointestinal dysmotility
Type II diabetes mellitus
Psychosis
Hallucinations
Progressive hearing impairment
Schizophrenia
Congenital sensorineural hearing impairment
Glucose intolerance
Diabetes insipidus
Abnormality of color vision
Scotoma
Optic neuropathy
Severe vision loss
Severe postnatal growth retardation
Male hypogonadism
Increased T3/T4 ratio
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like
Hyperreflexia and Elevated serum creatine phosphokinase, related diseases and genetic alterations
Brachydactyly and Severe short stature, related diseases and genetic alterations
Depressed nasal bridge and Stage 5 chronic kidney disease, related diseases and genetic alterations
Flexion contracture and Edema, related diseases and genetic alterations
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