Progressive cerebellar ataxia with hypogonadism

disorder

SNOMED 230240004CUI C1859305

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Abnormal ERG

Very frequent (80-99%)HP:0000512

Abnormal vocalization

Very frequent (80-99%)HP:0002167

Abnormality of RPE

Very frequent (80-99%)HP:0007703

Abnormality of the hypothalamus-pituitary axis

Very frequent (80-99%)HP:0000864

Ataxia

Very frequent (80-99%)HP:0001251

Atrophic cerebellum

Very frequent (80-99%)HP:0001272

Decreased activity of gonads

Very frequent (80-99%)HP:0000135

Decreased fertility

Very frequent (80-99%)HP:0000144

Gynaecomastia

Very frequent (80-99%)HP:0000771

Involuntary, rapid, rhythmic eye movements

Very frequent (80-99%)HP:0000639

Isolated hypogonadotropic hypogonadism

Very frequent (80-99%)HP:0000044

Optic atrophy

Very frequent (80-99%)HP:0000648

Absence of pubertal development

Frequent (30-79%)HP:0008197

Degeneration of cerebrum

Frequent (30-79%)HP:0002059

Difficulty articulating speech

Frequent (30-79%)HP:0001260

Light or infrequent menstrual periods

Frequent (30-79%)HP:0000876

Muscular hypotonia

Frequent (30-79%)HP:0001252

Paralysis or weakness of one side of body

Frequent (30-79%)HP:0004374

Previous menstrual periods stop

Frequent (30-79%)HP:0000869

Accessory nipples

Occasional (5-29%)HP:0002558

Behavioural disorders

Occasional (5-29%)HP:0000708

Choreiform movements

Occasional (5-29%)HP:0002072

Decreased body height

Occasional (5-29%)HP:0004322

Permanent curving of the pinkie finger

Occasional (5-29%)HP:0004209

Personality changes

Occasional (5-29%)HP:0000751

Primary amenorrhea

Occasional (5-29%)HP:0000786

Progressive dementia

Occasional (5-29%)HP:0000726

Wide skull shape

Occasional (5-29%)HP:0000248

Related Conditions

Progressive cerebellar ataxia(parent)

Chronic brain syndrome(parent)

Hypogonadotropic hypogonadism(parent)

Chronic disorder of genitourinary system(parent)

Hereditary degenerative disease of central nervous system(parent)

Hereditary ataxia(parent)

Hereditary disorder of endocrine system(parent)

Recessive hereditary disorder (autosomal)(parent)

Reproductive system hereditary disorder(parent)

Quick Facts

SNOMED CT: 230240004
UMLS CUI: C1859305
Fully Specified Name: Progressive cerebellar ataxia with hypogonadism (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 28

Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.