Optic atrophy, and Gynecomastia

Diseases related with Optic atrophy and Gynecomastia

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

Top matches:

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

Najm type X-linked intellectual deficit is a rare cerebellar dysgenesis syndrome characterized by variable clinical manifestations ranging from mild intellectual deficit with or without congenital nystagmus, to severe cognitive impairment associated with cerebellar and pontine hypoplasia/atrophy and abnormalities of cortical development.

X-LINKED INTELLECTUAL DISABILITY, NAJM TYPE Is also known as fgs1|keller syndrome|fg syndrome|fgs|x-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome|mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum|fg syndrome 1|micpch

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, NAJM TYPE

High match ALSTRÖM SYNDROME

Alström syndrome (AS) is a multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM; see this term), and progressive hepatic and renal dysfunction.

ALSTRÖM SYNDROME Is also known as alss

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ALSTRÖM SYNDROME

Other less relevant matches:

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 COWDEN SYNDROME

Cowden syndrome (CS) is a difficult to recognize, under-diagnosed genodermatosis characterized by the presence of multiple hamartomas in various tissues and an increased risk for malignancies of the breast, thyroid, endometrium, kidney and colorectum. When CS is accompanied by germline PTEN mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS; see this term) group.

COWDEN SYNDROME Is also known as bzs|cowden disease|bbrs|macrocephaly, multiple lipomas, and hemangiomata|pten hamartoma tumor syndrome with granular cell tumor|bannayan-zonana syndrome|macrocephaly, pseudopapilledema, and multiple hemangiomata|cs|cd|mham|pten hamartoma tumor syndrome|ri

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about COWDEN SYNDROME

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Abnormal facial shape
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY; CAFDADD

McCune-Albright syndrome (MAS) is classically defined by the clinical triad of fibrous dysplasia of bone (FD), café-au-lait skin spots, and precocious puberty (PP).

MCCUNE-ALBRIGHT SYNDROME Is also known as gonadotropin-independent female-limited sexual precocity

Related symptoms:

  • Optic atrophy
  • Macrocephaly
  • Abnormality of the dentition
  • Kyphosis
  • Mandibular prognathia


SOURCES: ORPHANET MENDELIAN

More info about MCCUNE-ALBRIGHT SYNDROME

Tetraamelia - multiple malformations is an extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.

TETRAAMELIA-MULTIPLE MALFORMATIONS SYNDROME Is also known as zimmer phocomelia

Related symptoms:

  • Micrognathia
  • Cataract
  • Cryptorchidism
  • Optic atrophy
  • Hydrocephalus


SOURCES: ORPHANET MENDELIAN

More info about TETRAAMELIA-MULTIPLE MALFORMATIONS SYNDROME

Dihyropyrimidine dehydrogenase deficiency shows large phenotypic variability, ranging from no symptoms to a convulsive disorder with motor and mental retardation in homozygous patients. In addition, homozygous and heterozygous mutation carriers can develop severe toxicity after the administration of the antineoplastic drug 5-fluorouracil (5FU), which is also catabolized by the DPYD enzyme. This is an example of a pharmacogenetic disorder (Van Kuilenburg et al., 1999).Since there is no correlation between genotype and phenotype in DPD deficiency, it appears that the deficiency is a necessary, but not sufficient, prerequisite for the development of clinical abnormalities (Van Kuilenburg et al., 1999; Enns et al., 2004).

DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY Is also known as pyrimidinemia, familial|familial pyrimidinemia|dpyd deficiency|dpd deficiency|thymine-uraciluria, hereditary

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY

MMDS3 is an autosomal recessive severe neurodegenerative disorder characterized by loss of previously acquired developmental milestones in the first months or years of life. Some affected patients have normal development in early infancy before the onset of symptoms, whereas others show delays from birth. Features included loss of motor function, spasticity, pyramidal signs, loss of speech, and cognitive impairment. The disease course is highly variable: some patients die of respiratory failure early in childhood, whereas some survive but may be bedridden with a feeding tube. Less commonly, some patients may survive and have a stable course with motor deficits and mild or even absent cognitive impairment, although there may be fluctuating symptoms, often in response to infection. Other variable features include visual problems and seizures. Brain imaging shows diffuse leukodystrophy in the subcortical region, brainstem, cerebellum, and spinal cord. Laboratory studies tend to show increased lactate and CSF glycine, and decreased activity of mitochondrial complexes I and II, although these findings are also variable. There may be additional biochemical evidence of mitochondrial dysfunction (summary by Liu et al., 2018).For a general description and a discussion of genetic heterogeneity of multiple mitochondrial dysfunctions syndrome, see MMDS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3; MMDS3

Top 5 symptoms//phenotypes associated to Optic atrophy and Gynecomastia

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Failure to thrive Uncommon - Between 30% and 50% cases
Ataxia Uncommon - Between 30% and 50% cases
Nystagmus Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Global developmental delay Intellectual disability Motor delay Visual impairment Feeding difficulties Cognitive impairment Cataract Hearing impairment Short stature Delayed speech and language development Goiter Muscular hypotonia Behavioral abnormality Encephalopathy Agenesis of corpus callosum Hypogonadism Ventriculomegaly Strabismus Macrocephaly Micrognathia Autism Scoliosis Microcephaly Respiratory distress Hydrocephalus Patent ductus arteriosus Dilatation Kyphosis Growth delay Respiratory failure

Rare Symptoms - Less than 30% cases

Iris coloboma Weight loss Tremor Skeletal muscle atrophy Hypothyroidism Anal atresia Ptosis Hypoventilation Irritability Elevated hepatic transaminase Broad thumb Muscle weakness Neoplasm of the thyroid gland Jaundice Tetraplegia Abnormality of the kidney Cerebral atrophy Pendular nystagmus Polyhydramnios Neoplasm Microphthalmia Diabetes insipidus Narrow mouth Blindness Respiratory insufficiency Recurrent infections Hepatomegaly Developmental regression Hypertension Pain Diarrhea Myopathy High palate Polycystic ovaries Absence seizures Megalencephaly Skin tags Thoracic scoliosis Hyporeflexia Alopecia Pneumonia Precocious puberty Myoclonus Cranial nerve paralysis Polymicrogyria Spastic tetraplegia Wide intermamillary distance Sparse hair Carious teeth Gastroesophageal reflux Cerebral cortical atrophy Hyperactivity Ovarian cyst Breast carcinoma Constipation Pulmonic stenosis Clinodactyly Hypertelorism Cryptorchidism Chronic diarrhea Spasticity Flexion contracture Epicanthus Short neck Myopia Long penis Downslanted palpebral fissures Sensorineural hearing impairment Frontal bossing Intellectual disability, moderate Cystic hygroma Autistic behavior Optic disc pallor Multiple cafe-au-lait spots Hypogonadotrophic hypogonadism Aggressive behavior Abnormality of retinal pigmentation Umbilical hernia Hyperthyroidism Abnormality of the dentition Thyroiditis Macule Ovarian neoplasm Papule Carcinoma Proximal muscle weakness Leukemia Acute myeloid leukemia Abnormality of the thyroid gland Cellulitis Multiple lipomas Hamartoma Dysdiadochokinesis Cutis marmorata Hypopigmented skin patches Exotropia Cafe-au-lait spot Lymphopenia Subcutaneous nodule Intention tremor Drooling Hemangioma Overgrowth Increased intracranial pressure Decreased antibody level in blood Lymphoma Macroglossia Melanocytic nevus Abnormal cerebellum morphology Hypoplasia of the maxilla Melanoma Palmoplantar hyperkeratosis Incoordination Palmoplantar keratoderma Telangiectasia Intracranial hemorrhage Hand polydactyly Joint hypermobility Nausea and vomiting Neoplasm of the skin Facial palsy Pectus excavatum Multifocal atrial tachycardia Abnormality of the pituitary gland Hypoplastic male external genitalia Hepatic necrosis Chronic hepatic failure Facial hirsutism ST segment depression Childhood-onset truncal obesity Squared iliac bones High-frequency sensorineural hearing impairment Increased circulating androgen level Exudative retinopathy Nonproductive cough Abnormal adipose tissue morphology Chronic active hepatitis Urethral obstruction Renovascular hypertension Receptive language delay Lumbar scoliosis First degree atrioventricular block Abnormality of the optic disc Decreased glomerular filtration rate Abnormal spermatogenesis Chronic infection Abnormality of the urethra Abnormality of dental color Albuminuria Epigastric pain Abnormal chorioretinal morphology Urethral stricture Impaired temperature sensation Female hypogonadism Abnormal muscle tone Hyperostosis frontalis interna Granular macular appearance Headache Iris hypopigmentation Abnormal autonomic nervous system physiology Progressive hearing impairment Sleep apnea Cachexia Abnormality of color vision Bulbar palsy Abnormal cranial nerve morphology Abnormality of eye movement Abnormality of macular pigmentation Low-set ears Brachydactyly Atrial septal defect Intellectual disability, mild Immunodeficiency Hallucinations Limb muscle weakness Thickened ears Precocious puberty in females Dilatation of the bladder Unilateral breast hypoplasia Glue ear Recurrent cystitis Widely-spaced incisors Abnormal retinal artery morphology EEG with occipital slowing Renal cell carcinoma Abnormality of prothrombin Abnormality of renal calyx morphology Localized hirsutism Vitreous haze Abnormality of the femoral head Dysarthria Dysphagia Hodgkin lymphoma Mucosal telangiectasiae Hashimoto thyroiditis Abnormality of the larynx Aspiration Febrile seizures Lethargy Coloboma Thrombocytopenia Hypertonia Fever Aplasia/Hypoplasia involving the pelvis Tetraamelia Aplasia/Hypoplasia involving the nose Septo-optic dysplasia Abnormally ossified vertebrae Aplasia/Hypoplasia of the nipples Vaginal atresia Tracheal stenosis Delayed gross motor development Testicular neoplasm Hyperparathyroidism Generalized hyperpigmentation Increased circulating cortisol level Hearing abnormality Macroorchidism Neoplasm of the breast Microtia Missing ribs Oral cleft Microcornea Abnormality of the ribs Multicystic kidney dysplasia Abnormal lung lobation Aplasia/Hypoplasia of the lungs Leukopenia Aspiration pneumonia Hypophosphatemia Opisthotonus Severe muscular hypotonia Spastic tetraparesis Leukoencephalopathy Abnormality of mitochondrial metabolism Hypoplasia of the brainstem Agitation Episodic fever Tetraparesis Loss of speech Severe lactic acidosis Primitive reflex Psychomotor deterioration Diffuse leukoencephalopathy Frontoparietal polymicrogyria Leukodystrophy Brain atrophy Diffuse cerebral atrophy Edema Stomatitis Recurrent aspiration pneumonia Reduced dihydropyrimidine dehydrogenase activity Uraciluria Intrauterine growth retardation Hypoplasia of the corpus callosum Acidosis Metabolic acidosis Retrognathia Muscular hypotonia of the trunk Abnormal pyramidal sign Arthrogryposis multiplex congenita Abnormality of the cerebral white matter Lactic acidosis Prolonged bleeding time Open bite Scaphocephaly Hamartomatous polyposis Follicular thyroid carcinoma Varicocele Thyroid adenoma Intestinal polyp Ovarian carcinoma Angioid streaks of the fundus Abnormality of the penis Subcutaneous lipoma Colonic diverticula Adenoma sebaceum Decreased proportion of CD4-positive T cells Neoplasm of the central nervous system Generalized hyperkeratosis Fibroma Papilloma Colorectal polyposis Arteriovenous malformation Lipoma Abnormality of the vasculature Papilledema Prolactin excess Meningioma Hydrocele testis Furrowed tongue Enlarged polycystic ovaries Abnormality of the uterus Astrocytoma Intestinal polyposis Bone cyst Cellular immunodeficiency Cavernous hemangioma Endometrial carcinoma Progressive macrocephaly Sarcoma Recurrent fractures Hypoplastic left heart Double outlet right ventricle Tethered cord Mandibular prognathia Skeletal dysplasia Abnormality of the eye Abnormality of the face Coarctation of aorta Tall stature Bone pain Abnormality of dental enamel Abnormal palate morphology Reduced bone mineral density Abnormality of vision Cerebral visual impairment Abnormality of the pinna Pseudopapilledema Trichilemmoma Hematemesis Acrokeratosis Transitional cell carcinoma of the bladder Fibroadenoma of the breast Cutis marmorata telangiectatica congenita Enlarged cerebellum Dysplastic gangliocytoma of the cerebellum Hernia Conjunctival hamartoma Ductal carcinoma in situ Merkel cell skin cancer Multiple trichilemmomata Lobular carcinoma in situ Abnormal facial shape Melena Gingivitis Frontal balding Auricular pit Rod-cone dystrophy Recurrent respiratory infections Visual loss Depressivity Obesity Renal insufficiency Splenomegaly Dystonia Congestive heart failure Vomiting Cardiomyopathy Fatigue Peripheral neuropathy Facial wrinkling Postnatal macrocephaly Diabetes mellitus Anal stenosis Multiple joint contractures High pitched voice Broad hallux Abnormality of the sternum Partial agenesis of the corpus callosum Anteriorly placed anus Facial hypotonia Microtia, first degree Delayed closure of the anterior fontanelle Gastrointestinal dysmotility Sagittal craniosynostosis Abnormality of the nasopharynx Frontal upsweep of hair Prominent fingertip pads Hyperhidrosis Abdominal pain Radial deviation of finger Infertility Dilated cardiomyopathy Generalized tonic-clonic seizures Hypotrichosis Hypermetropia Ophthalmoplegia Delayed puberty Dry skin Nyctalopia Retinal degeneration Lymphadenopathy Stage 5 chronic kidney disease Nausea Cirrhosis Tachycardia Cough Retinopathy Polydactyly Deeply set eye Hyperkeratosis Dyspnea Kyphoscoliosis Pes planus Hepatosplenomegaly Photophobia Conductive hearing impairment Scarring Myalgia Proteinuria Postnatal growth retardation Respiratory tract infection Pallor Abnormality of the liver Bowing of the legs Impulsivity Hirsutism Syndactyly Joint laxity Telecanthus Anxiety Neonatal hypotonia Rigidity Macrotia Prominent forehead Posteriorly rotated ears Cerebellar hypoplasia Inguinal hernia Abnormal heart morphology Hypospadias Absent speech Abnormality of cardiovascular system morphology Long philtrum Camptodactyly Hemiplegia/hemiparesis Clinodactyly of the 5th finger Dementia Brachycephaly Neurological speech impairment Abnormal electroretinogram Personality changes Supernumerary nipple Ventricular septal defect Decreased fertility Abnormality of the hypothalamus-pituitary axis Cleft palate Wide nasal bridge Gait disturbance Abnormality of the skeletal system Cleft lip Wide mouth Chorioretinal coloboma Joint contracture of the hand Open mouth Heterotopia Pachygyria Aganglionic megacolon Dental crowding Wide anterior fontanel Narrow palate Split hand Plagiocephaly Sacral dimple Optic nerve hypoplasia Relative macrocephaly Pyloric stenosis Congenital contracture Choanal atresia Thick lower lip vermilion Craniosynostosis Thin vermilion border Attention deficit hyperactivity disorder Broad forehead Severe global developmental delay Dolichocephaly Unsteady gait Cleft upper lip Downturned corners of mouth Fine hair Single transverse palmar crease Triangular face Intestinal malrotation Prominent nose Webbed neck Lumbar hyperlordosis Hepatic failure Retinal dystrophy Increased total bilirubin Severe sensorineural hearing impairment Elevated serum creatinine Right ventricular hypertrophy Attenuation of retinal blood vessels Tubulointerstitial nephritis Ketoacidosis Broad foot Posterior subcapsular cataract Oligomenorrhea Poor coordination Hyperventilation Alopecia of scalp Peripheral visual field loss Retinal atrophy Insulin-resistant diabetes mellitus Autoimmune thrombocytopenia Recurrent bronchitis Agenesis of permanent teeth Truncal obesity Abnormal retinal morphology Pericardial effusion Chorioretinal atrophy Polyphagia Short finger Progressive sensorineural hearing impairment Pericarditis Glomerulopathy Glycosuria Bronchitis Hyperuricemia Increased number of teeth Subcapsular cataract Acute hepatic failure Tubular atrophy Hydroureter Acute pancreatitis Elevated C-reactive protein level Arteriosclerosis Urinary retention Poor fine motor coordination Pyelonephritis Chills Achromatopsia Testicular atrophy Urethral stenosis Hepatic encephalopathy Abnormality of female external genitalia Multinodular goiter Bull's eye maculopathy Vertical nystagmus Tubulointerstitial fibrosis Abnormal left ventricle morphology Myocarditis Restrictive cardiomyopathy Oligospermia Male hypogonadism Myocardial fibrosis Chronic fatigue Chronic obstructive pulmonary disease Esophageal varix High-frequency hearing impairment Abnormal renal physiology Decreased HDL cholesterol concentration Menstrual irregularities Abnormal renal morphology Endocardial fibroelastosis Retinal pigment epithelial atrophy Disinhibition Urinary urgency Pulmonary fibrosis Hepatic steatosis Hepatitis Hepatic fibrosis Decreased liver function Insulin resistance Anorexia Thickened skin Left ventricular hypertrophy Recurrent urinary tract infections Involuntary movements Recurrent otitis media Hypertriglyceridemia Pulmonary arterial hypertension Epidermal acanthosis Type II diabetes mellitus Cardiomegaly Pigmentary retinopathy Sinusitis Urinary incontinence Nephropathy Sleep disturbance Ascites Abdominal distention Asthma Vesicoureteral reflux Round face Cyanosis Gastrointestinal hemorrhage Growth hormone deficiency Otitis media Decreased testicular size Progressive visual loss Specific learning disability Hyperpigmentation of the skin Short toe Emphysema Aplasia/Hypoplasia of the cerebellum Lipodystrophy Portal hypertension Polydipsia Nephritis Chronic otitis media Obsessive-compulsive behavior Constriction of peripheral visual field Elevated alkaline phosphatase Impaired vibratory sensation Acne Hyperostosis Hyperglycemia Glucose intolerance Polyuria Hyperinsulinemia Cholelithiasis Hypergonadotropic hypogonadism Macular degeneration Recurrent pneumonia Horizontal nystagmus Increased body weight Generalized hirsutism Nephrocalcinosis Accelerated skeletal maturation Acanthosis nigricans Abnormality of the hand Atherosclerosis Hyperlipidemia Pancreatitis Hypercholesterolemia Tachypnea Cone/cone-rod dystrophy Progressive leukoencephalopathy


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