Cognitive impairment, and Hyperhidrosis

Diseases related with Cognitive impairment and Hyperhidrosis

In the following list you will find some of the most common rare diseases related to Cognitive impairment and Hyperhidrosis that can help you solving undiagnosed cases.


Top matches:

Medium match PARKINSON DISEASE 17; PARK17


Parkinson disease-17 is an autosomal dominant, adult-onset form of the disorder. It is phenotypically similar to idiopathic Parkinson disease (summary by Wider et al., 2008).For a general phenotypic description and a discussion of genetic heterogeneity of Parkinson disease (PD), see {168600}.

Related symptoms:

  • Intellectual disability
  • Tremor
  • Dystonia
  • Hyperhidrosis
  • Rigidity


SOURCES: OMIM MENDELIAN

More info about PARKINSON DISEASE 17; PARK17

Low match EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 4; FFEVF4


FFEVF4 is an autosomal dominant seizure disorder characterized by onset of focal seizures in the first years of life. Some patients may have secondary generalization and/or mild developmental deficits (summary by Vanoye et al., 2014).For a discussion of genetic heterogeneity of FFEVF, see FFEVF1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 4; FFEVF4

Low match ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME


Ectodermal dysplasia-syndactyly syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by sparse to absent scalp hair, eyebrows, and eyelashes (with pili torti when present), widely spaced, conical-shaped teeth with peg-shaped, conical crowns and enamel hypoplasia and palmoplantar hyperkeratosis, associated with partial cutaneous syndactyly in hands and feet.

ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME Is also known as edss|edss1

Related symptoms:

  • Cognitive impairment
  • Syndactyly
  • Alopecia
  • Hyperhidrosis
  • Hyperkeratosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME

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Other less relevant matches:

Low match HYPERINSULINISM DUE TO UCP2 DEFICIENCY


HyHyperinsulism due to UCP2 deficiency (HIUCP2) is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI, see this term) characterized by hypoglycemic episodes from the neonatal period, a good clinical response to diazoxide and a probable transient nature of the disease with spontaneous resolution.

HYPERINSULINISM DUE TO UCP2 DEFICIENCY Is also known as hyperinsulinemic hypoglycemia due to ucp2 deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Cognitive impairment
  • Hepatomegaly
  • Vomiting


SOURCES: ORPHANET MENDELIAN

More info about HYPERINSULINISM DUE TO UCP2 DEFICIENCY

Low match HEREDITARY SENSORY NEUROPATHY-DEAFNESS-DEMENTIA SYNDROME


Hereditary sensory neuropathy type IE is an autosomal dominant neurodegenerative disorder characterized by adult onset of progressive peripheral sensory loss associated with progressive hearing impairment and early-onset dementia (summary by Klein et al., 2011).For a discussion of genetic heterogeneity of HSN, see HSAN1A (OMIM ).

HEREDITARY SENSORY NEUROPATHY-DEAFNESS-DEMENTIA SYNDROME Is also known as hsn ie|hsn1e|hereditary sensory neuropathy-sensorineural hearing loss-dementia syndrome|hsan1e|neuropathy, hereditary sensory, with hearing loss and dementia

Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment
  • Pain


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HEREDITARY SENSORY NEUROPATHY-DEAFNESS-DEMENTIA SYNDROME

Low match PACHYONYCHIA CONGENITA


Pachyonychia congenita (PC) is a rare genodermatosis predominantly featuring painful palmoplantar keratoderma, thickened nails, cysts and whitish oral mucosa.

PACHYONYCHIA CONGENITA Is also known as pc

Related symptoms:

  • Cataract
  • Cognitive impairment
  • Hepatomegaly
  • Respiratory insufficiency
  • Abnormality of the dentition


SOURCES: ORPHANET OMIM MENDELIAN

More info about PACHYONYCHIA CONGENITA

Low match SPASTIC PARAPLEGIA-OPTIC ATROPHY-NEUROPATHY SYNDROME


Spastic paraplegia-optic atrophy-neuropathy (SPOAN) syndrome is a rare, complex type of hereditary spastic paraplegia characterized by early-onset progressive spastic paraplegia presenting in infancy, associated with optic atrophy, fixation nystagmus, polyneuropathy occurring in late childhood/early adolescence leading to severe motor disability and progressive joint contractures and scoliosis. SPOAN syndrome is caused by mutations in the KLC2 gene (11q13.1), encoding kinesin light chain 2.

SPASTIC PARAPLEGIA-OPTIC ATROPHY-NEUROPATHY SYNDROME Is also known as spoan|spg68|autosomal recessive spastic paraplegia type 68

Related symptoms:

  • Global developmental delay
  • Scoliosis
  • Ataxia
  • Nystagmus
  • Pain


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SPASTIC PARAPLEGIA-OPTIC ATROPHY-NEUROPATHY SYNDROME

Low match HYPERINSULINISM DUE TO HNF1A DEFICIENCY


Hyperinsulinism due to HNF1A deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by transient or persistent hyperinsulinemic hypoglycemia (HH) in infancy that is responsive to diazoxide, evolving in to maturity-onset diabetes of the young subtype 1 (MODY-1; see this term) later in life.

HYPERINSULINISM DUE TO HNF1A DEFICIENCY Is also known as hyperinsulinemic hypoglycemia due to hnf1a deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hepatomegaly
  • Tremor
  • Fatigue


SOURCES: ORPHANET MENDELIAN

More info about HYPERINSULINISM DUE TO HNF1A DEFICIENCY

Low match BRAIN DOPAMINE-SEROTONIN VESICULAR TRANSPORT DISEASE


Brain dopamine-serotonin vesicular transport disease is a newly discovered infantile-onset neurometabolic disease characterized by dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Ptosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about BRAIN DOPAMINE-SEROTONIN VESICULAR TRANSPORT DISEASE

Low match HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B; HPABH4B


HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B; HPABH4B Is also known as gtp cyclohydrolase i deficiency|hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to gtp cyclohydrolase i deficiency

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B; HPABH4B

Top 5 symptoms//phenotypes associated to Cognitive impairment and Hyperhidrosis

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Dystonia Uncommon - Between 30% and 50% cases
Tremor Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cognitive impairment and Hyperhidrosis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Lethargy Progressive neurologic deterioration Ataxia Abnormal autonomic nervous system physiology Ptosis Generalized hypotonia Hepatomegaly Fatigue Dysarthria Parkinsonism

Rare Symptoms - Less than 30% cases


Hypertonia Hypoketotic hypoglycemia Vomiting Diarrhea Pallor Motor delay Tachycardia Coma Hyperinsulinemia Agitation Drowsiness Neonatal hypoglycemia Hyperinsulinemic hypoglycemia Abnormality of fatty-acid metabolism Pancreatic islet-cell hyperplasia Gait disturbance Limb dystonia Pain Peripheral neuropathy Hyporeflexia Oculogyric crisis Sensory neuropathy Abnormality of eye movement Muscular hypotonia of the trunk Decreased number of peripheral myelinated nerve fibers Impulsivity Depressivity Hyperreflexia Irritability Large for gestational age Hyperactivity Postural instability Palmoplantar keratoderma Abnormality of the hair Hyperkeratosis Alopecia Memory impairment Bradykinesia Dyskinesia Rigidity Lewy bodies Fasting hypoglycemia Increased body weight Elevated hepatic transaminase Infantile encephalopathy Neonatal hypotonia Excessive salivation Limb hypertonia Hyperreflexia proximally Exaggerated startle response Hyporeflexia of lower limbs Distal lower limb amyotrophy Motor axonal neuropathy Spasticity Impaired vibration sensation in the lower limbs Paraplegia Flexion contracture Skeletal muscle atrophy Optic atrophy Kyphosis Pes cavus Difficulty walking Spastic paraplegia Peripheral axonal neuropathy Episodic fever Distal amyotrophy Optic disc pallor Abnormality of extrapyramidal motor function Sensorimotor neuropathy Delayed gross motor development Sensory axonal neuropathy Multiple joint contractures Progressive spastic paraplegia Sleep disturbance Hypokinesia Dysphagia Scoliosis Abnormality of the eye Anxiety Constipation Babinski sign Encephalopathy Behavioral abnormality Fever Choreoathetosis Shuffling gait Orofacial dyskinesia Feeding difficulties Stooped posture Inappropriate crying Abnormality of coordination Strabismus Abnormality of movement Involuntary movements Abnormality of the foot Poor suck Muscular hypotonia Opisthotonus Postnatal microcephaly Spastic tetraparesis Obsessive-compulsive behavior Poor head control Nasal speech Dysdiadochokinesis Intellectual disability, progressive Hyperkinesis Stridor Drooling Abnormality of the vasculature Torticollis Hypomimic face Severe muscular hypotonia Nystagmus Sensory ataxia Steatocystoma multiplex Patchy alopecia Aplasia/Hypoplasia of the eyebrow Cutaneous finger syndactyly Heat intolerance Conical tooth Pili torti Ridged nail Hypoplasia of teeth Palmar hyperkeratosis Hypoplastic toenails Absent facial hair Epidermal hyperkeratosis 2-3 toe cutaneous syndactyly Secondary growth hormone deficiency Vitamin B1 deficiency Hearing impairment Sensorineural hearing impairment Cerebral atrophy Absent eyebrow Coarse hair Mental deterioration Syndactyly Schizophrenia Akinesia Resting tremor Microcephaly Delayed speech and language development Attention deficit hyperactivity disorder Focal-onset seizure Flushing Hypotrichosis Widely spaced teeth Ectodermal dysplasia Epidermal acanthosis Small nail Sparse scalp hair Hypoplasia of dental enamel Sparse and thin eyebrow Sparse eyelashes Cutaneous syndactyly Dementia Paresthesia Abnormality of nail color Abnormality of the fingernails Respiratory insufficiency Abnormality of the dentition Nail dystrophy Carious teeth Ichthyosis Abnormal blistering of the skin Abnormality of the nail Corneal dystrophy Narcolepsy Laryngomalacia Anonychia Natal tooth Hamartoma Oral leukoplakia Thick nail Epidermoid cyst Skin plaque Cataract Cataplexy Distal sensory impairment Osteomyelitis Neurodegeneration Gliosis Sensory impairment Neuronal loss in central nervous system Hallucinations Progressive hearing impairment Apathy Personality changes Global brain atrophy Delirium Severe hearing impairment Axonal loss Neurofibrillary tangles Onion bulb formation Delusions Visual hallucinations Diffuse cerebral atrophy Excessive daytime somnolence Hyperphenylalaninemia



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