Peripheral neuropathy, and Amenorrhea

Diseases related with Peripheral neuropathy and Amenorrhea

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


Top matches:

Low 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

Low 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

Low 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:

Low 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

Low 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

Low 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

Low 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

Low 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 THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME


Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness.

THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME Is also known as thmd1|trma|thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness|rogers syndrome|thiamine-responsive myelodysplasia|thiamine metabolism dysfunction syndrome 1 (megaloblastic anemia, diabetes mellitus, and deafness type

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA 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

Top 5 symptoms//phenotypes associated to Peripheral neuropathy and Amenorrhea

Symptoms // Phenotype % cases
Primary amenorrhea Very Common - Between 80% and 100% cases
Ataxia Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Sensorineural hearing impairment Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Secondary amenorrhea Hyporeflexia Pes cavus Seizures Polyneuropathy High palate Infertility Hypoplasia of the uterus Increased circulating gonadotropin level Nystagmus Global developmental delay Delayed puberty Gonadal dysgenesis Sensory neuropathy Hypergonadotropic hypogonadism Hypogonadism Spasticity Delayed skeletal maturation Intellectual disability Distal muscle weakness

Rare Symptoms - Less than 30% cases


Dysarthria Cognitive impairment Delayed speech and language development Abnormal facial shape Cerebellar atrophy Muscle weakness Generalized hypotonia Distal sensory impairment Peripheral axonal neuropathy Ophthalmoplegia Osteoporosis Optic atrophy Scoliosis Diarrhea Mental deterioration Lethargy Pallor Ptosis Cryptorchidism Motor delay Intellectual disability, mild Cerebellar hypoplasia Gait ataxia Bilateral sensorineural hearing impairment Dysmetria Diabetes mellitus Arrhythmia Amelogenesis imperfecta Tremor Sensory impairment Progressive peripheral neuropathy Microcephaly Decreased serum testosterone level Premature ovarian insufficiency Growth delay Sensorimotor neuropathy Headache Abnormal hair quantity Increased variability in muscle fiber diameter High anterior hairline Pili torti Gastroesophageal reflux Abnormal heart morphology Thin eyebrow Leukonychia Abnormal nasolacrimal system morphology Congestive heart failure Muscle flaccidity Abnormality of nail color Abnormal toenail morphology Visual loss Thrombocytopenia Ventricular septal defect Cardiomyopathy Atrial septal defect Anemia Abnormal eyebrow morphology Abnormal eyelid morphology Hypoplasia of dental enamel Abnormality of the dentition Speech articulation difficulties Thick hair Prolactin excess Camptodactyly of finger Ichthyosis Round face Cerebral calcification Mitochondrial myopathy Poor coordination Taurodontia Abnormality of dental enamel Hyperthyroidism Abnormality of the fingernails Acanthosis nigricans Multiple lipomas Myopathic facies Large hands Macular dystrophy External genital hypoplasia Hypoglycemia Mandibular prognathia Kyphoscoliosis Abdominal situs inversus Megaloblastic anemia Internuclear ophthalmoplegia Small hand Inability to walk Distal amyotrophy Falls Long face Retinopathy Anxiety Abnormality of the basal ganglia Hyperglycemia Sideroblastic anemia Paroxysmal atrial tachycardia Thiamine-responsive megaloblastic anemia Micrognathia Myopathy Depressivity Pectus excavatum Myalgia Difficulty walking Elevated serum creatine phosphokinase Macrocytic anemia Myelodysplasia Stroke Pancytopenia Paresthesia Gowers sign Retinal degeneration Dysdiadochokinesis Retinal dystrophy Neutropenia Aciduria Schizophrenia Abnormality of the skin Anorexia Polycystic ovaries Truncal ataxia Situs inversus totalis Cardiac arrest Limb ataxia Hoarse voice Frequent falls Aminoaciduria Intention tremor Pigmentary retinopathy Cone/cone-rod dystrophy Abnormal cardiac septum morphology CNS demyelination Limited extraocular movements Absent axillary hair Blind vagina Abnormality of peripheral nerves Minifascicle formation Inguinal hernia Muscle cramps Nephrolithiasis Gynecomastia Male pseudohermaphroditism Aplasia of the uterus Absent pubic hair Abnormal peripheral myelination Testicular gonadoblastoma Aplasia/Hypoplasia of the fallopian tube Increased serum lactate Abnormality of mitochondrial metabolism Sensory axonal neuropathy Elevated circulating luteinizing hormone level Increased serum pyruvate Positive Romberg sign Muscular hypotonia Hyperreflexia Gonadal dysgenesis, male Gonadal dysgenesis with female appearance, male Macrocephaly Reduced tendon reflexes Thin upper lip vermilion Deeply set eye Underdeveloped nasal alae Hypotelorism Spastic paraplegia Paraplegia Lower limb spasticity Congenital sensorineural hearing impairment Skeletal muscle atrophy Steppage gait Sensory ataxic neuropathy Decreased number of peripheral myelinated nerve fibers Male hypogonadism Gonadoblastoma Decreased serum estradiol Abnormal vagina morphology Abnormality of peripheral nerve conduction Abnormality of female external genitalia Streak ovary Testicular dysgenesis Distal sensory loss of all modalities Fever Gait disturbance Titubation Decreased circulating progesterone Progressive encephalopathy Hyperventilation Delusions Cerebral hypomyelination Primary gonadal insufficiency Diffuse leukoencephalopathy Rapid neurologic deterioration Spastic hemiparesis Cessation of head growth Talipes equinovarus Emotional lability Short neck Areflexia Rod-cone dystrophy Abnormality of the nervous system Hyperkinesis Bilateral ptosis Hammertoe Spastic diplegia Severe sensorineural hearing impairment Retinal atrophy Axonal degeneration Personality changes Blindness Gliosis Vomiting Cerebral atrophy Encephalopathy Dementia Developmental regression Abnormality of the cerebral white matter Unsteady gait Coma Progressive cerebellar ataxia Memory impairment Encephalitis Peripheral demyelination Hemiparesis Progressive neurologic deterioration Spastic gait Leukodystrophy Muscle stiffness Paraparesis Spastic paraparesis Leukoencephalopathy CNS hypomyelination Enlarged interhemispheric fissure



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