Ataxia, and Gynecomastia

Diseases related with Ataxia and Gynecomastia

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


Top matches:

Medium match CEREBELLAR ATAXIA-HYPOGONADISM SYNDROME


Cerebellar ataxia-hypogonadism syndrome is a very rare autosomal recessive neurodegenerative disorder characterized by the combination of progressive cerebellar ataxia with onset from early childhood to the fourth decade, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Cerebellar ataxia-hypogonadism syndrome belongs to a clinical continuum of neurodegenerative disorders along with clinically overlapping disorders such as ataxia-hypogonadism-choroidal dystrophy syndrome (see this term).

CEREBELLAR ATAXIA-HYPOGONADISM SYNDROME Is also known as luteinizing hormone-releasing hormone deficiency with ataxia|gordon-holmes syndrome

Related symptoms:

  • Short stature
  • Ataxia
  • Nystagmus
  • Muscular hypotonia
  • Optic atrophy


SOURCES: ORPHANET MENDELIAN

More info about CEREBELLAR ATAXIA-HYPOGONADISM SYNDROME

Medium match AUTOSOMAL RECESSIVE ATAXIA DUE TO UBIQUINONE DEFICIENCY


This syndrome is characterised by childhood-onset progressive ataxia and cerebellar atrophy.

AUTOSOMAL RECESSIVE ATAXIA DUE TO UBIQUINONE DEFICIENCY Is also known as arca2|autosomal recessive cerebellar ataxia type 2|spinocerebellar ataxia, autosomal recessive 9|scar9|autosomal recessive ataxia due to coenzyme q10 deficiency|autosomal recessive spinocerebellar ataxia type 9

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE ATAXIA DUE TO UBIQUINONE DEFICIENCY

Medium match HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA; HH1


Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH ) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by Raivio et al., 2007). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia.'For information on the autosomal forms of hypogonadotropic hypogonadism with or without anosmia, see {147950}.

HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA; HH1 Is also known as anosmic hypogonadism|hha|kallmann syndrome 1|dysplasia olfactogenitalis of de morsier|hypogonadotropic hypogonadism and anosmia|kms|kal1

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment
  • Cleft palate
  • Cryptorchidism


SOURCES: ORPHANET OMIM MENDELIAN

More info about HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA; HH1

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Other less relevant matches:

Medium match SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1


Kennedy disease is an X-linked recessive form of spinal muscular atrophy. It occurs only in men. Age at onset is usually in the third to fifth decade of life, but earlier involvement has been reported. The disorder is characterized by slowly progressive limb and bulbar muscle weakness with fasciculations, muscle atrophy, and gynecomastia (Harding et al., 1982). The disorder is clinically similar to, but genetically distinct from, classic forms of autosomal spinal muscular atrophy (see, e.g., SMA1; {253300}).

SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1 Is also known as kd|bulbospinal neuronopathy, x-linked recessive|xbsn|spinal and bulbar muscular atrophy|kennedy disease|bulbospinal muscular atrophy, x-linked|sbma|kennedy spinal and bulbar muscular atrophy

Related symptoms:

  • Ataxia
  • Muscle weakness
  • Muscular hypotonia
  • Pain
  • Peripheral neuropathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1

Medium 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

Medium 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

Medium match RIBOFLAVIN TRANSPORTER DEFICIENCY


Riboflavin transporter deficiency (RTD) is a progressive motor neuron disorder characterized by respiratory insufficiency, sensorineural deafness and progressive ponto-bulbar palsy.

RIBOFLAVIN TRANSPORTER DEFICIENCY Is also known as sensorineural hearing loss-pontobulbar palsy syndrome|brown-vialetto-van laere syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Muscle weakness
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about RIBOFLAVIN TRANSPORTER DEFICIENCY

Medium match 6Q TERMINAL DELETION SYNDROME


6q terminal deletion syndrome is marked by a characteristic facial dysmorphism, short neck and psychomotor retardation, generally associated with a range of non-specific malformations.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Scoliosis
  • Hypertelorism
  • Nystagmus


SOURCES: ORPHANET MENDELIAN

More info about 6Q TERMINAL DELETION SYNDROME

Medium match X-LINKED INTELLECTUAL DISABILITY, CABEZAS TYPE


X-linked intellectual disability, Cabezas type is characterised by intellectual deficit, muscle wasting, short stature, a prominent lower lip, small testes, kyphosis and joint hyperextensibility. An abnormal gait, tremor, decreased fine motor coordination and impaired speech are also present. The syndrome has been described in six boys from three generations of the same family. Transmission is X-linked and the causative gene has been localised to the q24-q25 region of the X chromosome.

X-LINKED INTELLECTUAL DISABILITY, CABEZAS TYPE Is also known as cabezas syndrome|mrss|mrxs15|mental retardation, x-linked, with short stature|mental retardation, x-linked, with short stature, hypogonadism, and abnormal gait|mental retardation, x-linked, syndromic 15

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, CABEZAS TYPE

Medium match INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY SYNDROME


Intellectual disability-cataracts-calcified pinnae-myopathy syndrome is a rare, genetic intellectual disability syndrome characterized by macrocephaly, hypotonia, dysmorphic facial features (wide forehead, ptosis, downslanting palpebral fissures, enlarged and calcified external ears, large jaw), sparse body hair, tall stature, and intellectual disability. Hearing loss, insulin-resistant diabetes, and progressive distal muscle wasting (leading to joint contractures) have also been reported in adulthood. Rare manifestations include behavioral abnormalities (aggression and restlessness), hypothyroidism, cerebral calcification, ataxia, and peripheral neuropathy.

INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY SYNDROME Is also known as primrose syndrome|ossified ear cartilages with mental deficiency, muscle wasting, and bony changes

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY SYNDROME

Top 5 symptoms//phenotypes associated to Ataxia and Gynecomastia

Symptoms // Phenotype % cases
Hypogonadism Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Gait ataxia Uncommon - Between 30% and 50% cases
Cryptorchidism Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Ataxia and Gynecomastia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Pes cavus Tremor Muscular hypotonia Short stature Delayed puberty Nystagmus Obesity Micropenis Hypogonadotrophic hypogonadism Gait disturbance Skeletal muscle atrophy Muscle weakness Aggressive behavior Decreased testicular size Scoliosis Peripheral neuropathy Ptosis Micrognathia Abnormal facial shape Macrocephaly Hypoplasia of the corpus callosum Dysarthria Hypoplasia of penis Hearing impairment Generalized hypotonia Behavioral abnormality Decreased fertility Global developmental delay

Rare Symptoms - Less than 30% cases


Hyposmia Testicular atrophy Failure to thrive Growth delay Bimanual synkinesia Striae distensae Truncal obesity Distal lower limb amyotrophy Erectile abnormalities Kyphosis Bilateral cryptorchidism Distal amyotrophy Anosmia Hypothalamic gonadotropin-releasing hormone deficiency Cerebellar atrophy Intellectual disability, severe Limb muscle weakness Sparse scalp hair Plagiocephaly Intention tremor Bulbar palsy Neurodegeneration Thick lower lip vermilion Synophrys Progressive gait ataxia Neurological speech impairment Hyporeflexia Areflexia Myopathy Dysphagia Clinodactyly of the 5th finger Hypothyroidism Brachycephaly Hypertonia Cachexia Abnormality of color vision Short neck Myoclonus Restlessness Proximal muscle weakness Paraplegia Intellectual disability, moderate Developmental regression Abnormal pyramidal sign Pes planus Progressive cerebellar ataxia Joint laxity Visual impairment Hypospadias Tics Cognitive impairment Intellectual disability, mild Strabismus Renal agenesis Ichthyosis Downslanted palpebral fissures Delayed speech and language development Sensorineural hearing impairment Facial asymmetry Abnormality of eye movement Hypertelorism Cleft palate High palate Polymicrogyria Biparietal narrowing Memory impairment Interphalangeal joint contracture of finger Cortical gyral simplification Narrow palpebral fissure Broad-based gait Short thumb Cubitus valgus Sandal gap Cerebellar vermis atrophy Abnormality of neuronal migration Abnormality of the musculature Cortical dysplasia Open bite Acanthosis nigricans Relative macrocephaly Large hands Prominent nose Aplasia/Hypoplasia of the ribs Macroglossia Periventricular gray matter heterotopia Hyperhidrosis Inguinal hernia Absent speech Immunodeficiency Ventriculomegaly Talipes calcaneovalgus Intrauterine growth retardation Mandibular prognathia Brachydactyly Epicanthus Depressed nasal bridge Motor delay Microcephaly Abnormality of the cerebral cortex Phimosis Hyperactivity Colpocephaly Short foot Short philtrum Small hand Short palm Bulbous nose Joint hypermobility Joint hyperflexibility Toe syndactyly Camptodactyly of finger High forehead Blepharophimosis Wide mouth Hallux valgus Prominent metopic ridge EEG abnormality Coarse facial features Broad philtrum Abnormality of the pinna Agenesis of corpus callosum Scaphocephaly Melanocytic nevus Congenital hypothyroidism Sparse body hair Basal ganglia calcification Ankle clonus Mixed hearing impairment Anonychia Metatarsus adductus Self-injurious behavior Insulin-resistant diabetes mellitus Schizophrenia Abnormal palate morphology Osteolysis Spastic paraparesis Knee flexion contracture Paraparesis Hypergonadotropic hypogonadism Clonus Hip contracture Irregular vertebral endplates Abnormal form of the vertebral bodies Posterior polar cataract Calcification of the auricular cartilage Increased size of the mandible Absent facial hair Posterior scalloping of vertebral bodies Torus palatinus Motor tics Basilar impression Absent axillary hair Abnormal glucose tolerance Poor coordination Narrow iliac wings Ectopic calcification Recurrent ear infections Bone cyst Generalized osteoporosis Dystrophic fingernails Broad face Thoracic kyphosis Thickened skin Bradykinesia Down-sloping shoulders Cataract Midface retrusion Microphthalmia Malar flattening Hydrocephalus Anteverted nares Abnormality of the skeletal system Flexion contracture Anemia Neoplasm Babinski sign Abnormality of toe Moderately short stature Mood swings Small earlobe Abnormality of earlobe Abdominal obesity Panhypopituitarism Abnormal hair pattern Pectus excavatum Osteoporosis Cerebral calcification Congenital cataract Hip dysplasia Otitis media Nevus Hypoplasia of the maxilla Downturned corners of mouth Short distal phalanx of finger Genu valgum Narrow chest Broad forehead Diabetes mellitus Prominent nasal bridge Protruding ear Conductive hearing impairment Deeply set eye Osteopenia Macrotia Narrow mouth Autism Infantile muscular hypotonia Respiratory insufficiency Low anterior hairline Pneumonia Muscle cramps Sensory neuropathy Infertility Muscular dystrophy Myalgia Difficulty walking Elevated serum creatine phosphokinase Type II diabetes mellitus Pain Total anosmia Leydig cell insensitivity to gonadotropin Decreased circulating follicle stimulating hormone level Olfactory lobe agenesis Decreased circulating luteinizing hormone level Alobar holoprosencephaly Abnormal cerebellum morphology Progressive muscle weakness Bilateral renal agenesis Muscle fibrillation Aspiration pneumonia Hand tremor Abnormality of the mouth Overweight Abnormality of lipid metabolism Axonal loss Impotence Fasciculations Amyotrophic lateral sclerosis Calf muscle hypertrophy Spinal muscular atrophy Limb-girdle muscular dystrophy Dysphonia Hyperlipidemia Aspiration Eunuchoid habitus Microphallus Oligospermia Hyperreflexia EMG abnormality Increased serum lactate Lactic acidosis Stroke Muscular hypotonia of the trunk Dystonia Abnormality of the hypothalamus-pituitary axis Brisk reflexes Supernumerary nipple Hemiplegia/hemiparesis Personality changes Abnormal electroretinogram Abnormality of retinal pigmentation Dementia Optic atrophy Exercise intolerance Neurodevelopmental delay Abnormal renal morphology Abnormality of the eye Sparse pubic hair Anodontia Unilateral renal agenesis Azoospermia Holoprosencephaly Hypotelorism Oral cleft Cleft lip Axonal degeneration Focal T2 hypointense basal ganglia lesion Talipes cavus equinovarus Epilepsia partialis continua Increased intramyocellular lipid droplets Generalized tonic seizures Increased CSF lactate Central hypotonia Bulbar signs Kinetic tremor Heterotopia Cerebral cortical atrophy Progressive hearing impairment Cranial nerve paralysis Abnormal autonomic nervous system physiology Hallucinations Optic disc pallor Facial palsy Hypertension Diabetes insipidus Central heterochromia Long eyebrows Choroideremia Alopecia areata Titubation Recurrent hypoglycemia Retinal atrophy Sleep apnea Iris hypopigmentation Sensory axonal neuropathy Hypermetropia Short palpebral fissure Hypsarrhythmia Wide intermamillary distance Highly arched eyebrow High, narrow palate Thick vermilion border Dysmetria Abnormality of the cerebral white matter Abnormal cranial nerve morphology Dolichocephaly Low-set, posteriorly rotated ears Hyperkeratosis Prominent forehead Cerebellar hypoplasia Clinodactyly Abnormality of macular pigmentation Chorioretinal atrophy Horizontal nystagmus Hyperlipoproteinemia Delayed skeletal maturation Abnormality of the voice Reduced number of teeth Reduced bone mineral density Primary amenorrhea Recurrent fractures Skeletal dysplasia Abnormality of cardiovascular system morphology Abnormality of female internal genitalia Proximal spinal muscular atrophy Laryngospasm Exercise-induced muscle cramps Motor neuron atrophy Limb tremor Tongue atrophy Decreased LDL cholesterol concentration Anterior hypopituitarism Breast hypoplasia Long eyelashes Small for gestational age Clumsiness Pigmentary retinopathy Growth hormone deficiency Thick eyebrow Retinal degeneration Peripheral axonal neuropathy Spastic paraplegia Distal muscle weakness Dyspareunia Sparse hair Pallor Hypoglycemia Rod-cone dystrophy Severe short stature Alopecia Frontal bossing Superiorly displaced ears



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Narrow mouth, related diseases and genetic alterations Downslanted palpebral fissures and Narrow forehead, related diseases and genetic alterations Autoimmunity and Hypotrichosis, related diseases and genetic alterations Hyperreflexia and Hyperglycemia, related diseases and genetic alterations Macrocephaly and High myopia, related diseases and genetic alterations

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