Obesity, and Tremor

Diseases related with Obesity and Tremor

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


Top matches:

Low match X-LINKED INTELLECTUAL DISABILITY-SHORT STATURE-OVERWEIGHT SYNDROME


X-linked intellectual disability-short stature-overweight syndrome is a multiple congenital anomalies syndrome characterized by borderline to severe intellectual disability, speech delay, short stature, elevated body mass index, a pattern of truncal obesity (reported in older males), and variable neurologic features (e.g. hypotonia, tremors, gait disturbances, behavioral problems, and seizure disorders). Less common manifestations include microcephaly, microorchidism and/or microphallus. Dysmorphic features have been reported in some patients but no consitent pattern has been noted.

X-LINKED INTELLECTUAL DISABILITY-SHORT STATURE-OVERWEIGHT SYNDROME Is also known as mental retardation, x-linked 35|mrx35

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY-SHORT STATURE-OVERWEIGHT SYNDROME

Low match CITRULLINEMIA, TYPE II, ADULT-ONSET; CTLN2


Adult-onset type II citrullinemia is an autosomal recessive metabolic disorder characterized clinically by the sudden onset of various neuropsychologic symptoms such as disorientation, abnormal behavior, convulsions, and coma due to hyperammonemia. In some cases, rapid progression can lead to brain edema and death if liver transplantation is not possible. Some patients may present with nonalcoholic hepatic steatosis or may develop hepatic fibrosis or hepatocellular carcinoma. Patients with this disorder have a natural aversion to carbohydrates and favor protein, which is in contrast to protein aversion usually observed in patients with urea cycle defects (summary by Komatsu et al., 2008).

CITRULLINEMIA, TYPE II, ADULT-ONSET; CTLN2 Is also known as citrin deficiency

Related symptoms:

  • Seizures
  • Tremor
  • Edema
  • Vomiting
  • Diarrhea


SOURCES: ORPHANET OMIM MENDELIAN

More info about CITRULLINEMIA, TYPE II, ADULT-ONSET; CTLN2

Low match COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 15


Combined oxidative phosphorylation defect type 15 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by onset in infancy or early childhood of muscular hypotonia, gait ataxia, mild bilateral pyramidal tract signs, developmental delay (affecting mostly speech and coordination) and subsequent intellectual disability. Short stature, obesity, microcephaly, strabismus, nystagmus, reduced visual acuity, lactic acidosis, and a brain neuropathology consistent with Leigh syndrome are also reported.

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 15 Is also known as coxpd15

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 15

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Other less relevant matches:

Low match THYROTOXIC PERIODIC PARALYSIS


Thyrotoxic periodic paralysis (TPP) is a rare neurological disease characterized by recurrent episodes of paralysis and hypokalemia during a thyrotoxic state.

THYROTOXIC PERIODIC PARALYSIS Is also known as thyrotoxic hypokalemic periodic paralysis

Related symptoms:

  • Muscle weakness
  • Hypertension
  • Hyperreflexia
  • Tremor
  • Obesity


SOURCES: OMIM ORPHANET MENDELIAN

More info about THYROTOXIC PERIODIC PARALYSIS

Low match KALLMANN SYNDROME


Kallmann syndrome (KS) is a developmental genetic disorder characterized by the association of congenital hypogonadotropic hypogonadism (CHH) due to gonadotropin-releasing hormone (GnRH) deficiency, and anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs).

KALLMANN SYNDROME Is also known as congenital hypogonadotropic hypogonadism with anosmia|olfacto-genital pathological sequence

Related symptoms:

  • Seizures
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: ORPHANET MENDELIAN

More info about KALLMANN 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 HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D; HPABH4D


Tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia (HPA) D is an autosomal recessive disorder characterized by mild transient hyperphenylalaninemia often detected by newborn screening. Patients also show increased excretion of 7-biopterin. Affected individuals are asymptomatic and show normal psychomotor development, although transient neurologic deficits in infancy have been reported (Thony et al., 1998). Patients may also develop hypomagnesemia and nonautoimmune diabetes mellitus during puberty (summary by Ferre et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of BH4-deficient hyperphenylalaninemia, see HPABH4A (OMIM ).

HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D; HPABH4D Is also known as hyperphenylalaninemia with primapterinuria|hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to pterin-4-alpha-carbinolamine dehydratase deficiency|pcbd deficiency|cadh deficiency

Related symptoms:

  • Generalized hypotonia
  • Muscular hypotonia
  • Motor delay
  • Tremor
  • Hypertonia


SOURCES: OMIM MENDELIAN

More info about HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D; HPABH4D

Low match SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT; SPG3A


The hereditary spastic paraplegias are a group of clinically and genetically diverse disorders characterized by progressive, usually severe, lower extremity spasticity; see reviews of Fink et al. (1996) and Fink (1997).SPG is classified according to both the mode of inheritance (autosomal dominant, autosomal recessive (see {270800}), and X-linked (see {303350})) and whether progressive spasticity occurs in isolation ('uncomplicated SPG') or with other neurologic abnormalities ('complicated SPG'), including optic neuropathy, retinopathy, extrapyramidal disturbance, dementia, ataxia, ichthyosis, mental retardation, and deafness. The major neuropathologic feature of autosomal dominant, uncomplicated SPG is axonal degeneration that is maximal in the terminal portions of the longest descending and ascending tracts (crossed and uncrossed corticospinal tracts to the legs and fasciculus gracilis, respectively). Spinocerebellar fibers are involved to a lesser extent. Since the description of 'pure' hereditary spastic paraparesis of late onset by Strumpell (1904), many 'complicated' forms of the disorder have been reported and the question as to whether a 'pure' form exists has been raised off and on. Probably in large part because of their exceptional length, the pyramidal tracts are unusually vulnerable to both acquired and genetic derangement. Although a majority of reported families have displayed recessive inheritance, 10 to 30% of families have a dominant pattern and in fact recessive inheritance of a 'pure' spastic paraplegia may be rare. Genetic Heterogeneity of Autosomal Dominant Spastic ParaplegiaIn addition to SPG3A, other forms of autosomal dominant spastic paraplegia for which the molecular basis is known include SPG4 (OMIM ), caused by mutation in the SPAST gene (OMIM ) on 2p22; SPG6 (OMIM ), caused by mutation in the NIPA1 gene (OMIM ) on 15q11; SPG8 (OMIM ), caused by mutation in the KIAA0196 gene (OMIM ) on 8q24; SPG9A (OMIM ), caused by mutation in the ALDH18A1 gene (OMIM ) on 10q24; SPG10 (OMIM ), caused by mutation in the KIF5A gene (OMIM ) on 12q13; SPG12 (OMIM ), caused by mutation in the RTN2 gene (OMIM ) on 19q13; SPG13 (OMIM ), caused by mutation in the SSPD1 gene (OMIM ) on 2q33.1; SPG31 (OMIM ), caused by mutation in the REEP1 gene (OMIM ) on 2p11; SPG33 (OMIM ), caused by mutation in the ZFYVE27 gene (OMIM ) on 10q24; SPG72 (OMIM ), caused by mutation in the REEP2 gene (OMIM ) on 5q31; and SPG73 (OMIM ), caused by mutation in the CPT1C gene (OMIM ) on 19q13.Autosomal dominant spastic paraplegia has been mapped to chromosomes 9q (SPG19 ), 1p31-p21 (SPG29 ), 12q23-q24 (SPG36 ), 8p21.1-q13.3 (SPG37 ), 4p16-p15 (SPG38 ), and 11p14.1-p11.2 (SPG41 ).

SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT; SPG3A Is also known as spg3|fsp1|strumpell disease|familial spastic paraplegia, autosomal dominant, 1

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT; SPG3A

Low match ANGELMAN SYNDROME; AS


Angelman syndrome is a neurodevelopmental disorder characterized by mental retardation, movement or balance disorder, typical abnormal behaviors, and severe limitations in speech and language. Most cases are caused by absence of a maternal contribution to the imprinted region on chromosome 15q11-q13. Prader-Willi syndrome (PWS ) is a clinically distinct disorder resulting from paternal deletion of the same 15q11-q13 region. In addition, the chromosome 15q11-q13 duplication syndrome (OMIM ) shows overlapping clinical features.Clayton-Smith and Pembrey (1992) provided a review of Angelman syndrome. Cassidy and Schwartz (1998) reviewed the molecular and clinical aspects of both Prader-Willi syndrome and Angelman syndrome. Horsthemke and Wagstaff (2008) provided a detailed review of the mechanisms of imprinting of the Prader-Willi/Angelman syndrome region.Van Buggenhout and Fryns (2009) provided a review of Angelman syndrome and discussed genetic counseling of the disorder, which can show a recurrence risk of up to 50%, depending on the underlying genetic mechanism.

ANGELMAN SYNDROME; AS Is also known as happy puppet syndrome, formerly

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ANGELMAN SYNDROME; AS

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

Top 5 symptoms//phenotypes associated to Obesity and Tremor

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Ataxia Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Muscle weakness Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia Nystagmus Visual impairment Hyperreflexia Delayed speech and language development Tetraplegia Gait ataxia Paraplegia Vomiting Constipation Motor delay Clumsiness Cognitive impairment Muscular hypotonia Gait disturbance Microcephaly Drowsiness

Rare Symptoms - Less than 30% cases


Hypogonadotrophic hypogonadism Dysarthria Optic atrophy Strabismus Infertility Abnormality of the cerebral white matter Spastic tetraplegia Incoordination Hypomagnesemia Gynecomastia Increased body weight Hypoplasia of penis Hyperhidrosis Paralysis Global developmental delay Tachycardia Cerebral palsy Ichthyosis Delayed puberty Micropenis Progressive gait ataxia Pes cavus Cryptorchidism Sensorineural hearing impairment Lower limb muscle weakness Spasticity Lethargy Behavioral abnormality Overweight Diarrhea Confusion Peripheral axonal neuropathy Coma Spastic paraplegia Hearing impairment Scoliosis Decreased liver function Elevated hepatic transaminase Fatigue Pallor Abnormal facial shape Peripheral neuropathy Cerebellar atrophy Rod-cone dystrophy Hyperactivity Choroideremia Progressive spasticity Degeneration of the lateral corticospinal tracts Neurogenic bladder Diabetes mellitus Growth abnormality Hand polydactyly Hypertonia Distal lower limb amyotrophy Taurodontia Urinary bladder sphincter dysfunction Impaired vibration sensation in the lower limbs Axonal degeneration Alopecia areata Central heterochromia Long eyebrows Postural tremor Impaired vibratory sensation Optic neuropathy Urinary urgency Poor coordination Pneumonia Type II diabetes mellitus Limb muscle weakness Abnormality of the nervous system Retinopathy Babinski sign Visual loss Syndactyly Hypertelorism Intellectual disability, mild Blindness Nyctalopia Hypoplasia of the corpus callosum Respiratory distress Hyperphenylalaninemia Sensory neuropathy Polyneuropathy Urinary incontinence Lower limb spasticity Spastic gait Flexion contracture Clonus Dementia Transient hyperphenylalaninemia Paraparesis Spastic paraparesis Long-tract signs Wide mouth Feeding difficulties Protruding tongue Moderate global developmental delay Profound global developmental delay Short attention span Fair hair Blue irides Epileptic spasms Atonic seizures Limb tremor Keratoconus Polyphagia Albinism Flat occiput Self-injurious behavior Hyperkinesis Drooling Happy demeanor Inappropriate laughter Intellectual disability, progressive Large for gestational age Pancreatic islet-cell hyperplasia Fasting hypoglycemia Hypoketotic hypoglycemia Hyperinsulinemic hypoglycemia Neonatal hypoglycemia Agitation Hyperinsulinemia Sleep-wake cycle disturbance Progressive neurologic deterioration Neonatal hypotonia Hepatomegaly Anisometropia Paroxysmal bursts of laughter Tongue thrusting Large foramen magnum Widely spaced teeth Aspiration Myopia Cerebral cortical atrophy Anxiety Deeply set eye EEG abnormality Gastroesophageal reflux Mandibular prognathia Autism Brachycephaly Autistic behavior Inguinal hernia Encephalopathy Absent speech Kyphosis Intellectual disability, severe Macrocephaly Fever Feeding difficulties in infancy Neurological speech impairment Exotropia Focal-onset seizure Postnatal microcephaly Abnormality of the face Broad-based gait Status epilepticus Intellectual disability, profound Generalized-onset seizure Overgrowth Macroglossia Hypermetropia Abnormal cerebellum morphology Hypoplasia of the maxilla Hypopigmentation of the skin Sleep disturbance Falls Astigmatism Abnormality of movement Titubation Failure to thrive Recurrent hypoglycemia Proptosis Ventricular septal defect Reduced visual acuity Abnormal pyramidal sign Poor speech Unsteady gait Increased serum lactate Intention tremor Ragged-red muscle fibers Pituitary adenoma Increased CSF lactate Wolff-Parkinson-White syndrome Hypertension Hyporeflexia Weight loss Muscle cramps Delayed menarche Palpitations Muscle stiffness EMG abnormality Goiter Hypokalemia Ophthalmoparesis Myotonia Ventricular fibrillation Hyperkalemia Mildly elevated creatine phosphokinase Prolonged QT interval Hyperthyroidism Rhabdomyolysis Thyroiditis Hypoargininemia Delirium Heat intolerance Psychosis Ventriculomegaly Cerebellar hypoplasia Gliosis Truncal obesity Microphallus Cervical cord compression Increased body mass index Edema Carcinoma Aggressive behavior Irritability Abnormality of the liver Hepatic steatosis Memory impairment Hypertriglyceridemia Mania Cholestasis Hallucinations Hepatic fibrosis Pancreatitis Hyperammonemia Hypoalbuminemia Restlessness Insomnia Hepatocellular carcinoma Delusions Intrahepatic cholestasis Echolalia Enuresis Cerebral edema Hashimoto thyroiditis Graves disease Retinal atrophy Hypothyroidism Decreased fertility Hyposmia Anterior hypopituitarism Abnormality of female internal genitalia Breast hypoplasia Bimanual synkinesia Dyspareunia Erectile abnormalities Hypothalamic gonadotropin-releasing hormone deficiency Growth delay Frontal bossing Alopecia Severe short stature Hypogonadism Hypoglycemia Abnormality of the voice Sparse hair Distal muscle weakness Small for gestational age Retinal degeneration Distal amyotrophy Thick eyebrow Progressive cerebellar ataxia Growth hormone deficiency Pigmentary retinopathy Sparse scalp hair Long eyelashes Horizontal nystagmus Sensory axonal neuropathy Chorioretinal atrophy Abnormality of color vision Reduced number of teeth Abnormality of peripheral nerve conduction Episodic hypokalemia Urinary retention Periodic paralysis Abnormality of muscle fibers Postprandial hyperglycemia Impaired myocardial contractility Shortened PR interval Increased intramyocellular lipid droplets Periodic hypokalemic paresis Exercise-induced muscle fatigue Late-onset proximal muscle weakness Respiratory paralysis Episodic flaccid weakness Second degree atrioventricular block Thyrotoxicosis with diffuse goiter Decreased urinary potassium Anosmia Transient hypophosphatemia Thyrotoxicosis with toxic single thyroid nodule Thyrotoxicosis with toxic multinodular goitre Cleft palate Ptosis Abnormality of cardiovascular system morphology Delayed skeletal maturation Skeletal dysplasia Pes planus Recurrent fractures Renal agenesis Decreased testicular size Primary amenorrhea Reduced bone mineral density Abnormality of fatty-acid metabolism



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