Peripheral neuropathy, and Primary amenorrhea

Diseases related with Peripheral neuropathy and Primary amenorrhea

In the following list you will find some of the most common rare diseases related to Peripheral neuropathy and Primary amenorrhea that can help you solving undiagnosed cases.


Top matches:

Medium match OVARIAN DYSGENESIS 7; ODG7


Ovarian dysgenesis-7 is characterized by primary amenorrhea, delayed puberty, elevated gonadotropic hormones, and small uterus and ovaries. Ovarian histology shows fibrotic ovaries without follicles (Chen et al., 2018).

Related symptoms:

  • Abnormal facial shape
  • Ptosis
  • Delayed skeletal maturation
  • Hypogonadism
  • Thin upper lip vermilion


SOURCES: OMIM MENDELIAN

More info about OVARIAN DYSGENESIS 7; ODG7

Medium match PERRAULT SYNDROME 3; PRLTS3


Perrault syndrome (PRLTS) is an autosomal recessive disorder characterized by sensorineural hearing loss (SNHL) and premature ovarian failure (POF) secondary to ovarian dysgenesis. Affected males have SNHL but show normal pubertal development. A spectrum of additional clinical features, including cerebellar ataxia, learning disability, and peripheral neuropathy, have been described in some affected individuals (summary by Jenkinson et al., 2013).For a discussion of genetic heterogeneity of Perrault syndrome, see PRLTS1 (OMIM ).

PERRAULT SYNDROME 3; PRLTS3 Is also known as dfnb81, formerly|deafness, autosomal recessive 81, formerly

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about PERRAULT SYNDROME 3; PRLTS3

Medium match 46,XY GONADAL DYSGENESIS-MOTOR AND SENSORY NEUROPATHY SYNDROME


46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome is a rare, genetic, developmental defect during embryogenesis disorder characterized by partial (unilateral testis, persistence of Müllerian duct structures) or complete (streak gonads only) gonadal dysgenesis, usually manifesting with primary amenorrhea in individuals with female phenotype but 46,XY karyotype, and sensorimotor dysmyelinating minifascicular polyneuropathy, which presents with numbness, weakness, exercise-induced muscle cramps, sensory disturbances and reduced/absent deep tendon reflexes. Germ cell tumors (seminoma, dysgerminoma, gonadoblastoma) may develop from the gonadal tissue.

Related symptoms:

  • Skeletal muscle atrophy
  • Pes cavus
  • Distal muscle weakness
  • Infertility
  • Polyneuropathy


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about 46,XY GONADAL DYSGENESIS-MOTOR AND SENSORY NEUROPATHY SYNDROME

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Other less relevant matches:

Medium match COMPLETE ANDROGEN INSENSITIVITY SYNDROME


Complete androgen insensitivity syndrome (CAIS) is a form of androgen insensitivity syndrome (AIS; see this term), a disorder of sex development (DSD), characterized by the presence of female external genitalia in a 46,XY individual with normal testis development but undescended testes and unresponsiveness to age-appropriate levels of androgens.

COMPLETE ANDROGEN INSENSITIVITY SYNDROME Is also known as cais|complete androgen resistance syndrome

Related symptoms:

  • Cryptorchidism
  • Tremor
  • Inguinal hernia
  • Osteoporosis
  • Infertility


SOURCES: ORPHANET MENDELIAN

More info about COMPLETE ANDROGEN INSENSITIVITY SYNDROME

Medium match PERRAULT SYNDROME 5; PRLTS5


Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment


SOURCES: OMIM MENDELIAN

More info about PERRAULT SYNDROME 5; PRLTS5

Medium match LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER; VWM


Vanishing white matter leukodystrophy is an autosomal recessive neurologic disorder characterized by variable neurologic features, including progressive cerebellar ataxia, spasticity, and cognitive impairment associated with white matter lesions on brain imaging. The age at onset can range from early infancy to adulthood. Rapid neurologic deterioration can occur following minor head trauma. Female mutation carriers may develop ovarian failure, manifest as primary amenorrhea or as secondary amenorrhea lasting more than 6 months, associated with elevated gonadotropin levels at age less than 40 years (summary by Van der Knaap et al., 1998 and Schiffmann et al., 1997).

LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER; VWM Is also known as cach|cle|childhood ataxia with central nervous system hypomyelinization|cree leukoencephalopathy|vanishing white matter leukodystrophy

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Muscle weakness
  • Muscular hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER; VWM

Medium match PERRAULT SYNDROME


Perrault syndrome (PS) is characterized by the association of ovarian dysgenesis in females with sensorineural hearing impairment. In more recent PS reports, some authors have described neurologic abnormalities, notably progressive cerebellar ataxia and intellectual deficit.

PERRAULT SYNDROME Is also known as ovarian dysgenesis with sensorineural deafness|gonadal dysgenesis, xx type, with deafness|xx gonodal dysgenesis-deafness syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about PERRAULT SYNDROME

Medium match DEAFNESS-ENAMEL HYPOPLASIA-NAIL DEFECTS SYNDROME


Deafness-enamel hypoplasia-nail defects syndrome is characterised by sensorineural hearing loss, generalised enamel hypoplasia of the permanent dentition with normal primary dentition, and nail defects (Beau's lines and leukonychia). Less than 10 patients have been described so far. Transmission is autosomal recessive.

DEAFNESS-ENAMEL HYPOPLASIA-NAIL DEFECTS SYNDROME Is also known as heimler syndrome|hearing loss, sensorineural, with enamel hypoplasia and nail defects|pbd1c|peroxisome biogenesis disorder 1c

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment
  • Peripheral neuropathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about DEAFNESS-ENAMEL HYPOPLASIA-NAIL DEFECTS SYNDROME

Low match MITOCHONDRIAL MYOPATHY-CEREBELLAR ATAXIA-PIGMENTARY RETINOPATHY SYNDROME


MITOCHONDRIAL MYOPATHY-CEREBELLAR ATAXIA-PIGMENTARY RETINOPATHY SYNDROME Is also known as mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about MITOCHONDRIAL MYOPATHY-CEREBELLAR ATAXIA-PIGMENTARY RETINOPATHY SYNDROME

Low match WOODHOUSE-SAKATI SYNDROME


Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia.

WOODHOUSE-SAKATI SYNDROME Is also known as hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and extrapyramidal syndrome|extrapyramidal disorder, progressive, with primary hypogonadism, mental retardation, and alopecia|diabetes-hypogonadism-deafness-intellectual disability s

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about WOODHOUSE-SAKATI SYNDROME

Top 5 symptoms//phenotypes associated to Peripheral neuropathy and Primary amenorrhea

Symptoms // Phenotype % cases
Amenorrhea Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Ataxia Uncommon - Between 30% and 50% cases
Sensorineural hearing impairment Uncommon - Between 30% and 50% cases
Pes cavus Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Peripheral neuropathy and Primary amenorrhea. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Short stature Hyporeflexia Seizures Intellectual disability Hypoplasia of the uterus Hypergonadotropic hypogonadism High palate Polyneuropathy Delayed puberty Sensory neuropathy Hypogonadism Dysarthria Infertility Delayed speech and language development Distal muscle weakness Secondary amenorrhea Mental deterioration Gonadal dysgenesis Premature ovarian insufficiency Cognitive impairment Scoliosis Spasticity Decreased serum testosterone level Intellectual disability, mild Increased circulating gonadotropin level Delayed skeletal maturation

Rare Symptoms - Less than 30% cases


Peripheral axonal neuropathy Ophthalmoplegia Distal sensory impairment Sensory impairment Cerebellar atrophy Generalized hypotonia Nystagmus Abnormal facial shape Ptosis Muscle weakness Hyperreflexia Gait disturbance Diarrhea Tremor Motor delay Cerebellar hypoplasia Gait ataxia Dysmetria Amelogenesis imperfecta Bilateral sensorineural hearing impairment Osteoporosis Diabetes mellitus Decreased serum estradiol Global developmental delay Growth delay Streak ovary Sensorimotor neuropathy Falls Depressivity Heart block Small hand Abnormal nasolacrimal system morphology Muscle flaccidity Abnormality of nail color Micrognathia Inability to walk Distal amyotrophy Myopathy Pectus excavatum Long face Elevated serum creatine phosphokinase Abnormal hair quantity Mandibular prognathia Kyphoscoliosis Difficulty walking Myalgia Anxiety Pallor Retinopathy Dental malocclusion Anodontia Leukonychia External genital hypoplasia Round face Cerebral calcification Hypoplasia of the fallopian tube Hypoplasia of dental enamel Abnormality of dental enamel Abnormality of the fingernails Progressive extrapyramidal movement disorder Acanthosis nigricans Large hands Macular dystrophy Abnormal eyebrow morphology Intention tremor Taurodontia Decreased serum insulin-like growth factor 1 Abnormal eyelid morphology Increased thyroid-stimulating hormone level Abnormal toenail morphology High anterior hairline Abnormal spermatogenesis Pili torti Thin eyebrow Abnormal T-wave Pigmentary retinopathy Truncal ataxia Frequent falls High forehead Alopecia Hypogonadotrophic hypogonadism Hallucinations Choreoathetosis Sparse scalp hair Myocardial infarction Fine hair Psychosis Micropenis Hypothyroidism Camptodactyly Ichthyosis Protruding ear Sparse hair Prominent nasal bridge Arthrogryposis multiplex congenita Hypotrichosis Abnormality of extrapyramidal motor function Dehydration Abnormality of movement Decreased testicular size Triangular face Babinski sign Dystonia Limb ataxia Autoimmune thrombocytopenia Prominent nose Schizophrenia Dysdiadochokinesis Gowers sign Increased variability in muscle fiber diameter Myopathic facies Insulin-resistant diabetes mellitus Multiple lipomas Hyperthyroidism Poor coordination Mitochondrial myopathy Frontal bossing Prolactin excess Thick hair Speech articulation difficulties Enlarged interhemispheric fissure Aplasia/Hypoplasia of the eyebrow Flat occiput Sparse eyebrow Hyperlipidemia Hypertelorism Purpura Downslanted palpebral fissures Abnormality of metabolism/homeostasis Spastic hemiparesis Camptodactyly of finger Testicular gonadoblastoma Minifascicle formation Cryptorchidism Inguinal hernia Muscle cramps Nephrolithiasis Gynecomastia Male pseudohermaphroditism Aplasia of the uterus Absent axillary hair Absent pubic hair Aplasia/Hypoplasia of the fallopian tube Blind vagina Increased serum lactate Abnormality of mitochondrial metabolism Sensory axonal neuropathy Elevated circulating luteinizing hormone level Increased serum pyruvate Positive Romberg sign Muscular hypotonia Fever Macrocephaly Optic atrophy Abnormality of peripheral nerves Gonadal dysgenesis, male Vomiting Reduced tendon reflexes Thin upper lip vermilion Deeply set eye Underdeveloped nasal alae Hypotelorism Microcephaly Spastic paraplegia Paraplegia Lower limb spasticity Congenital sensorineural hearing impairment Skeletal muscle atrophy Steppage gait Abnormal peripheral myelination Decreased number of peripheral myelinated nerve fibers Male hypogonadism Gonadoblastoma Abnormal vagina morphology Abnormality of peripheral nerve conduction Abnormality of female external genitalia Testicular dysgenesis Distal sensory loss of all modalities Sensory ataxic neuropathy Gonadal dysgenesis with female appearance, male Blindness Cerebral atrophy Arrhythmia Abnormality of the nervous system Cerebral hypomyelination Primary gonadal insufficiency Diffuse leukoencephalopathy Rapid neurologic deterioration Cessation of head growth Decreased circulating progesterone Talipes equinovarus Short neck Areflexia Rod-cone dystrophy Hyperkinesis Delusions Bilateral ptosis Hammertoe Spastic diplegia Severe sensorineural hearing impairment Retinal atrophy Titubation Progressive peripheral neuropathy Limited extraocular movements Internuclear ophthalmoplegia Abnormality of the dentition CNS demyelination Hyperventilation Encephalopathy Hemiparesis Dementia Developmental regression Lethargy Abnormality of the cerebral white matter Unsteady gait Coma Progressive cerebellar ataxia Gliosis Memory impairment Peripheral demyelination Progressive neurologic deterioration Progressive encephalopathy Spastic gait Leukodystrophy Muscle stiffness Paraparesis Spastic paraparesis Leukoencephalopathy CNS hypomyelination Encephalitis Personality changes Emotional lability Axonal degeneration Progressive alopecia



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