Tremor, and Hirsutism

Diseases related with Tremor and Hirsutism

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


Top matches:

Low match CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2; CAMRQ2


Cerebellar ataxia, mental retardation, and dysequilibrium syndrome (CAMRQ) is a genetically heterogeneous disorder characterized by congenital cerebellar ataxia and mental retardation (summary by Gulsuner et al., 2011).For a discussion of genetic heterogeneity of CAMRQ, see CAMRQ1 (OMIM ).

CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2; CAMRQ2 Is also known as cerebellar ataxia and mental retardation with or without quadrupedal locomotion 2

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2; CAMRQ2

Low match SEVERE NEURODEGENERATIVE SYNDROME WITH LIPODYSTROPHY


Severe neurodegenerative syndrome with lipodystrophy is a rare, genetic, neurodegenerative disorder characterized by progressive psychomotor and cognitive regression (manifesting with gait ataxia, spasticity, loss of language, mild to severe intellectual disability, pyramidal and extrapyramidal signs and, frequently, development of tretraplegia or tetraparesis) associated with variable degrees of lipodystrophy, hepatomegaly, hypertriglyceridemia and muscular hypertorphy. Hyperactivity, tremor and development of seizures may also be associated.

SEVERE NEURODEGENERATIVE SYNDROME WITH LIPODYSTROPHY Is also known as severe neurodegenerative syndrome due to bscl2 deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Ataxia
  • Spasticity
  • Cognitive impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about SEVERE NEURODEGENERATIVE SYNDROME WITH LIPODYSTROPHY

Low match MUCOPOLYSACCHARIDOSIS, TYPE IIIB; MPS3B


Sanfilippo syndrome B is an autosomal recessive lysosomal storage disorder characterized by the accumulation of heparan sulfate. Clinically, patients have progressive neurodegeneration, behavioral problems, mild skeletal changes, and shortened life span. The clinical severity ranges from mild to severe (Chinen et al., 2005).For a phenotypic description and a discussion of genetic heterogeneity of Sanfilippo syndrome, or mucopolysaccharidosis III, see MPS IIIA (OMIM ).

MUCOPOLYSACCHARIDOSIS, TYPE IIIB; MPS3B Is also known as sanfilippo syndrome b|mps iiib|n-acetyl-alpha-d-glucosaminidase deficiency|naglu deficiency

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE IIIB; MPS3B

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Other less relevant matches:

Low match CONGENITAL LACTIC ACIDOSIS, SAGUENAY-LAC-SAINT-JEAN TYPE


Saguenay-Lac-St. Jean (SLSJ) type congenital lactic acidosis, a French Canadian form of Leigh syndrome (see this term), is a mitochondrial disease characterized by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development.

CONGENITAL LACTIC ACIDOSIS, SAGUENAY-LAC-SAINT-JEAN TYPE Is also known as cytochrome oxidase deficiency, saguenay-lac-saint-jean type|cytochrome c oxidase deficiency, french canadian type|cytochrome c oxidase deficiency, french-canadian type|cox deficiency, french canadian type|leigh syndrome, french-canadian type|slsj-cox defi

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CONGENITAL LACTIC ACIDOSIS, SAGUENAY-LAC-SAINT-JEAN TYPE

Low match X-LINKED INTELLECTUAL DISABILITY-GLOBAL DEVELOPMENT DELAY-FACIAL DYSMORPHISM-SACRAL CAUDAL REMNANT SYNDROME


X-linked syndromic mental retardation-33 is an X-linked recessive neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, and characteristic facial features (summary by O'Rawe et al., 2015).

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY-GLOBAL DEVELOPMENT DELAY-FACIAL DYSMORPHISM-SACRAL CAUDAL REMNANT SYNDROME

Low match GM1-GANGLIOSIDOSIS, TYPE I


GM1-Gangliosidosis is an autosomal recessive lysosomal storage disease characterized by accumulation of ganglioside substrates in lysosomes. Clinically, patients show variable degrees of neurodegeneration and skeletal abnormalities. There are 3 main clinical variants categorized by severity and variable residual beta-galactosidase activity. Type I, or infantile form, shows rapid psychomotor deterioration beginning within 6 months of birth, generalized central nervous system involvement, hepatosplenomegaly, facial dysmorphism, macular cherry-red spots, skeletal dysplasia, and early death. Type II, or late-infantile/juvenile form (OMIM ), has onset between 7 months and 3 years, shows generalized central nervous system involvement with psychomotor deterioration, seizures, localized skeletal involvement, and survival into childhood. Hepatosplenomegaly and cherry-red spots are usually not present. Type III, or adult/chronic form (OMIM ), shows onset from 3 to 30 years and is characterized by localized skeletal involvement and localized central nervous system involvement, such as dystonia or gait or speech disturbance. There is an inverse correlation between disease severity and residual enzyme activity (Suzuki et al., 2001).See also Morquio B disease (OMIM ), an allelic disorder with skeletal anomalies and no neurologic involvement.The GM2-gangliosidoses include Tay-Sachs disease (OMIM ) and Sandhoff disease (OMIM ).

GM1-GANGLIOSIDOSIS, TYPE I Is also known as gangliosidosis, generalized gm1, type 1|gangliosidosis, generalized gm1, type i|glb1 deficiency|gangliosidosis, generalized gm1, infantile form|beta-galactosidase-1 deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about GM1-GANGLIOSIDOSIS, TYPE I

Low match MELAS


MELAS (Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke) syndrome is a rare progressive multisystemic disorder characterized by encephalomyopathy, lactic acidosis, and stroke-like episodes. Other features include endocrinopathy, heart disease, diabetes, hearing loss, and neurological and psychiatric manifestations.

MELAS Is also known as mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes|melas syndrome|mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MELAS

Low match EPILEPSY, FAMILIAL ADULT MYOCLONIC, 6; FAME6


EPILEPSY, FAMILIAL ADULT MYOCLONIC, 6; FAME6 Is also known as cortical myoclonic tremor with epilepsy, familial, 6|benign adult familial myoclonic epilepsy 6|fcmte6|bafme6

Related symptoms:

  • Seizures
  • Tremor


SOURCES: OMIM MENDELIAN

More info about EPILEPSY, FAMILIAL ADULT MYOCLONIC, 6; FAME6

Low match 2Q23.1 MICRODELETION SYNDROME


The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures.

2Q23.1 MICRODELETION SYNDROME Is also known as pseudo-angelman syndrome|del(2)(q23.1)|monosomy 2q23.1

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 2Q23.1 MICRODELETION SYNDROME

Low match MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM WITH METHYLMALONIC ACIDURIA


Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria is characterised by the association of a mitochondrial encephalomyopathy and an aminoacidopathy. It has been described in two brothers presenting with developmental delay, neurological signs, deafness, exercise intolerance, lactic acidosis and elevation of several plasmatic amino acids. Mitochondria morphology was found to be abnormal on muscle biopsy. Transmission is likely to be linked to maternal mitochondrial DNA.

MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM WITH METHYLMALONIC ACIDURIA Is also known as mtdna depletion syndrome, encephalomyopathic form with methylmalonic aciduria|mitochondrial encephalomyopathy-aminoacidopathy syndrome|booth-haworth-dilling syndrome|mitochondrial dna depletion syndrome, encephalomyopathic form, with or without methylmalo

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM WITH METHYLMALONIC ACIDURIA

Top 5 symptoms//phenotypes associated to Tremor and Hirsutism

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Ataxia Very Common - Between 80% and 100% cases
Seizures Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Strabismus Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Tremor and Hirsutism. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Dystonia

Uncommon Symptoms - Between 30% and 50% cases


Cerebellar atrophy Short stature Coarse facial features Generalized hirsutism Kyphosis Hearing impairment Delayed speech and language development Muscular hypotonia Generalized hypotonia Dysphagia Growth delay Failure to thrive Developmental regression Hypertelorism Hepatomegaly Microcephaly Cardiomyopathy Cerebellar hypoplasia Gait ataxia Encephalopathy Hyperactivity Scoliosis Nystagmus Sleep disturbance Synophrys Skeletal muscle atrophy Ventriculomegaly Feeding difficulties in infancy Dementia Short neck Behavioral abnormality Hip dysplasia Peripheral neuropathy Hyporeflexia Constipation Protruding ear Postnatal growth retardation Gastroesophageal reflux Cerebral atrophy Ptosis Truncal ataxia Visual impairment Motor delay Lactic acidosis Cognitive impairment Feeding difficulties Dysmetria Spasticity Hypertrophic cardiomyopathy Sensorineural hearing impairment Acidosis Hyperreflexia

Rare Symptoms - Less than 30% cases


Long philtrum Stroke Generalized-onset seizure Prominent forehead Peripheral demyelination Cerebral calcification Myopia Low anterior hairline High palate Low-set ears Highly arched eyebrow External ophthalmoplegia Polyneuropathy Stroke-like episode Coma Increased serum lactate Increased CSF lactate Macrotia Reduced tendon reflexes Thin upper lip vermilion Facial diplegia Autism Cerebral cortical atrophy Elevated serum creatine phosphokinase Areflexia Vomiting Decreased nerve conduction velocity Fever Psychomotor deterioration Abnormality of visual evoked potentials Generalized dystonia Bundle branch block Cachexia Gingival overgrowth Hypertrichosis Abnormality of movement Autistic behavior Muscle weakness Attention deficit hyperactivity disorder Bulbous nose Broad nasal tip EEG abnormality Delayed gross motor development Gait imbalance Optic atrophy Dilated cardiomyopathy Frontal bossing Blindness Congestive heart failure Weight loss Ophthalmoplegia Malar flattening Renal tubular dysfunction Anxiety Mental deterioration Progressive encephalopathy Cardiomegaly Neurodegeneration Joint stiffness Aggressive behavior Splenomegaly Diarrhea Abnormal pyramidal sign Short palm Inability to walk Absent speech Short foot Intention tremor Intellectual disability, progressive Status epilepticus Hepatic steatosis Hypertension Myoclonus Hypertonia Respiratory insufficiency Progressive neurologic deterioration Small hand Myopathy Abnormal facial shape Hypoplasia of the corpus callosum Intellectual disability, severe Respiratory distress Anteverted nares Thickened ribs Dysarthria Dysostosis multiplex Athetosis Progressive sensorineural hearing impairment Aminoaciduria Vertebral fusion Respiratory insufficiency due to muscle weakness Abnormal electroretinogram Multiple lipomas Severe hearing impairment Methylmalonic aciduria Basal ganglia calcification Involuntary movements Prolonged QT interval Visual field defect Hyperkalemia Dysphasia Vestibular dysfunction Aphasia Glomerulopathy Abnormality of immune system physiology Hyperthyroidism Severe global developmental delay Mitochondrial myopathy Atrial fibrillation Hypoparathyroidism Heart block Xerostomia Irritability Vitiligo Neonatal hypoglycemia Hashimoto thyroiditis Rhabdomyolysis Aciduria Atopic dermatitis Drowsiness Distal arthrogryposis Pulmonary embolism Hemiparesis Primary adrenal insufficiency Thyroiditis Abnormality of the basal ganglia Type I diabetes mellitus Adrenal insufficiency Schizophrenia Growth abnormality Methylmalonic acidemia Hallucinations Cerebral visual impairment Easy fatigability Hyperkinesis Clonus Goiter Cardiac arrest Atrioventricular block EMG abnormality Hypogonadotrophic hypogonadism Mutism Hypopigmented skin patches Ischemic stroke Ragged-red muscle fibers Pancreatitis Macular degeneration Purpura Chronic kidney disease Abnormality of retinal pigmentation Exercise intolerance Intestinal obstruction Abnormality of neuronal migration Focal segmental glomerulosclerosis Hemiplegia/hemiparesis Mask-like facies Decreased activity of mitochondrial respiratory chain Decreased body weight Bifid scrotum Aplasia/Hypoplasia of the cerebellum Personality changes Anorexia Progressive external ophthalmoplegia Ophthalmoparesis Hyponatremia Abnormality of mitochondrial metabolism Left ventricular hypertrophy Aortic aneurysm Hemiplegia Bilateral ptosis Hypercalciuria Overlapping toe Thick eyebrow Posterior subcapsular cataract Short chin Open mouth Dental crowding Abnormality of acid-base homeostasis Homonymous hemianopia Abnormal cochlea morphology Paralytic ileus Stereotypy Abnormal mitochondrial shape Finger clinodactyly Cochlear degeneration Episodic quadriplegia Absence seizures Progressive night blindness Psychosis Sandal gap Widely spaced teeth Cochlear malformation Infantile muscular hypotonia Edema of the dorsum of hands Abnormal mitochondrial morphology Paronychia Hypoplasia of penis Bilateral intracranial calcifications Spotty hypopigmentation Wide mouth Facial asymmetry Hypermetropia Downturned corners of mouth Everted lower lip vermilion Prominent nose Broad forehead Microtia Esotropia Focal-onset seizure Retrognathia Morphological abnormality of the vestibule of the inner ear Brachycephaly Clinodactyly of the 5th finger Clinodactyly Short nose Cryptorchidism Micrognathia Febrile seizures Epileptic encephalopathy Prominent ear helix Morphological abnormality of the inner ear Tented upper lip vermilion Focal impaired awareness seizure Transient ischemic attack Anterior hypopituitarism Abnormality of peripheral nerve conduction Short attention span Retinal pigment epithelial atrophy Macrodontia Hemifacial hypoplasia Speech apraxia Paroxysmal bursts of laughter Left ventricular failure Seborrheic dermatitis Abnormality of lower lip Ileus Reduced consciousness/confusion Cerebral ischemia Wolff-Parkinson-White syndrome Visual hallucinations Tubulointerstitial nephritis Astigmatism Aortic dissection Flexion contracture Cardiorespiratory arrest Delusions Proximal tubulopathy Hemianopia Language impairment Auditory hallucinations Abnormal macular morphology Hemeralopia Crohn's disease Abnormality of the cerebellar vermis Self-injurious behavior Psychotic episodes Cupped ear Tubulointerstitial abnormality Renal Fanconi syndrome Abnormal nerve conduction velocity Amaurosis fugax Abnormality of the renal tubule Gastroparesis Spontaneous hematomas Polyphagia Leber optic atrophy Persistence of primary teeth Writer's cramp Muscle fiber atrophy Dysesthesia Motor polyneuropathy Episodic vomiting Ventricular hypertrophy Gait disturbance Pulmonary arterial hypertension Increased hepatocellular lipid droplets Abnormality of eye movement Sparse hair Deeply set eye Osteopenia Proptosis Pectus excavatum Downslanted palpebral fissures Intrauterine growth retardation Brachydactyly Congenital lactic acidosis Joint hypermobility Microvesicular hepatic steatosis CNS demyelination Breathing dysregulation Anteriorly placed anus Hyperglycemia Poor suck Tachypnea Leukoencephalopathy Shock Long face High, narrow palate Broad-based gait Thickened helices Prominent protruding coccyx Broad chin Thickened ears Prominent coccyx Caesarian section Sleep-wake cycle disturbance Short digit Toenail dysplasia Nasolacrimal duct obstruction Depressed nasal tip Eczema Aplasia cutis congenita Spastic diplegia Flat occiput Oral-pharyngeal dysphagia Chronic otitis media Prominent supraorbital ridges Sacral dimple Microretrognathia Pointed chin Cerebellar vermis hypoplasia Decreased liver function Gliosis Abnormality of the septum pellucidum Atrophy of the dentate nucleus Acanthosis nigricans Insulin resistance Hypertriglyceridemia Tetraparesis Neuronal loss in central nervous system Cirrhosis Respiratory tract infection Respiratory failure Aplasia of the inferior half of the cerebellar vermis Abnormality of the neck Hyperinsulinemia Thoracic kyphosis Thoracic scoliosis Cortical dysplasia Global brain atrophy Dysdiadochokinesis Lissencephaly Heterotopia Brain atrophy Micropenis Lipodystrophy Brisk reflexes Metabolic acidosis Protuberant abdomen Hypoglycemia Hypospadias Midface retrusion Intellectual disability, mild Wide nasal bridge Dense calvaria Ovoid thoracolumbar vertebrae Heparan sulfate excretion in urine Asymmetric septal hypertrophy Coarse hair Reduced subcutaneous adipose tissue Recurrent upper respiratory tract infections Limb ataxia Retinal degeneration Reduced intraabdominal adipose tissue Poor motor coordination Caudate atrophy Progressive psychomotor deterioration Generalized lipodystrophy Loss of speech Limb dystonia Talipes cavus equinovarus Depressed nasal bridge Type II diabetes mellitus Abnormality of the liver Nausea and vomiting Carious teeth Congenital cataract Arthrogryposis multiplex congenita Lethargy Generalized tonic-clonic seizures Pruritus Neurological speech impairment Nyctalopia Erythema Delayed puberty Abnormality of the pinna Apnea Proteinuria Myalgia Photophobia Jaundice Dyspnea Hypothyroidism Abdominal pain Malabsorption Anal atresia Hypogonadism Sudden cardiac death Nephrotic syndrome Bilateral sensorineural hearing impairment Abnormality of the cardiovascular system Pigmentary retinopathy Amenorrhea Specific learning disability Memory impairment Migraine Sensory impairment Generalized myoclonic seizures Paresthesia Abnormal cerebellum morphology Muscle cramps Postural instability Nephropathy Polymicrogyria Nausea Peripheral axonal neuropathy Vertigo Ichthyosis Confusion Diabetes mellitus Osteoporosis Abnormality of the skeletal system Abdominal distention Abnormal heart valve morphology Encephalitis Abnormality of the urinary system Abnormality of epiphysis morphology Abnormal form of the vertebral bodies Abnormality of the metaphysis Depressed nasal ridge Abnormality of the skin Macroglossia Corneal opacity Abnormality of the retinal vasculature Camptodactyly of finger Hyperlordosis Hepatosplenomegaly Arthralgia Skeletal dysplasia Mandibular prognathia Severe short stature Recurrent respiratory infections Inguinal hernia Beaking of vertebral bodies Aplasia/Hypoplasia of the abdominal wall musculature Rod-cone dystrophy Cataract Delayed skeletal maturation Arrhythmia Visual loss Depressivity Headache Renal insufficiency Abnormality of the dentition Fatigue Anemia Pain Abnormal diaphysis morphology Abnormality of ganglioside metabolism Decreased beta-galactosidase activity Cerebral degeneration Abnormality of the scrotum Angiokeratoma corporis diffusum Cherry red spot of the macula Rough bone trabeculation Hypoplastic vertebral bodies Vacuolated lymphocytes Exaggerated startle response Loss of ability to walk in early childhood



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