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:

Low match GNE MYOPATHY


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

Low match INTELLECTUAL DISABILITY-STRABISMUS SYNDROME


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

Low match ACERULOPLASMINEMIA


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:

Low match ANE SYNDROME


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

Low match WOLFRAM-LIKE 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

Low match OLIVER-MCFARLANE SYNDROME; OMCS


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

Low match FRAGILE X-ASSOCIATED TREMOR/ATAXIA SYNDROME


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

Low match GABRIELE-DE VRIES 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

Low match FAMILIAL STEROID-RESISTANT NEPHROTIC SYNDROME WITH ADRENAL INSUFFICIENCY


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

Low match HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6; CHNG6


Related symptoms:

  • Intellectual disability
  • Short stature
  • Growth delay
  • Hypertelorism
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6; CHNG6

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 Stroke, related diseases and genetic alterations Brachydactyly and Hypogonadism, related diseases and genetic alterations Depressed nasal bridge and Finger syndactyly, related diseases and genetic alterations Immunodeficiency and Dental crowding, related diseases and genetic alterations

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