Muscle weakness, and Abnormality of the genital system

Diseases related with Muscle weakness and Abnormality of the genital system

In the following list you will find some of the most common rare diseases related to Muscle weakness and Abnormality of the genital system that can help you solving undiagnosed cases.


Top matches:

Low match SARCOIDOSIS, SUSCEPTIBILITY TO, 2; SS2


Related symptoms:

  • Facial palsy
  • Interstitial pulmonary abnormality


SOURCES: OMIM MENDELIAN

More info about SARCOIDOSIS, SUSCEPTIBILITY TO, 2; SS2

Low match NEUROPATHY, PAINFUL


Related symptoms:

  • Peripheral neuropathy
  • Fever
  • Skeletal muscle atrophy
  • Lower limb muscle weakness


SOURCES: OMIM MESH MENDELIAN

More info about NEUROPATHY, PAINFUL

Low match GLYCOGEN STORAGE DISEASE DUE TO MUSCLE PHOSPHOFRUCTOKINASE DEFICIENCY


Muscle phosphofructokinase (PFK) deficiency (Tarui's disease), or glycogen storage disease type 7 (GSD7), is a rare form of glycogen storage disease characterized by exertional fatigue and muscular exercise intolerance. It occurs in childhood.

GLYCOGEN STORAGE DISEASE DUE TO MUSCLE PHOSPHOFRUCTOKINASE DEFICIENCY Is also known as tarui disease|glycogen storage disease type 7|glycogen storage disease type vii|gsd type 7|glycogenosis type 7|glycogenosis due to muscle phosphofructokinase deficiency|gsd type vii|glycogenosis type vii|gsd due to muscle phosphofructokinase deficiency

Related symptoms:

  • Muscle weakness
  • Anemia
  • Skeletal muscle atrophy
  • Myotonia
  • Hyperuricemia


SOURCES: ORPHANET MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO MUSCLE PHOSPHOFRUCTOKINASE DEFICIENCY

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Other less relevant matches:

Low match NEUROPATHY, HEREDITARY SENSORY, TYPE IIC; HSN2C


HSN2C is an autosomal recessive disorder characterized by onset in the first decade of progressive distal sensory loss leading to ulceration and amputation of the fingers and toes. Affected individuals also develop distal muscle weakness, primarily affecting the lower limbs (summary by Riviere et al., 2011).For a discussion of genetic heterogeneity of HSN, see HSAN1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Muscle weakness
  • Peripheral neuropathy
  • Areflexia


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUROPATHY, HEREDITARY SENSORY, TYPE IIC; HSN2C

Low match ISOLATED THYROTROPIN-RELEASING HORMONE DEFICIENCY


ISOLATED THYROTROPIN-RELEASING HORMONE DEFICIENCY Is also known as hypothalamic hypothyroidism|isolated prothyroliberin deficiency|isolated protirelin deficiency|isolated trf deficiency|isolated tsh-releasing factor deficiency|trh deficiency|isolated thyroliberin deficiency|isolated thyrotropin-releasing factor deficienc

Related symptoms:

  • Intellectual disability
  • Short stature
  • Muscle weakness
  • Delayed skeletal maturation
  • Constipation


SOURCES: ORPHANET OMIM MENDELIAN

More info about ISOLATED THYROTROPIN-RELEASING HORMONE DEFICIENCY

Low match CHARCOT-MARIE-TOOTH DISEASE TYPE 2P


Charcot-Marie-Tooth disease type 2P is a rare, genetic, axonal hereditary motor and sensory neuropathy disorder characterized by adulthood-onset of slowly progressive, occasionally asymmetrical, distal muscle weakness and atrophy (predominantly in the lower limbs), pan-modal sensory loss, muscle cramping in extremities and/or trunk, pes cavus and absent or reduced deep tendon reflexes. Gait anomalies and variable autonomic disturbances, such as erectile dysfunction and urinary urgency, may be associated.

CHARCOT-MARIE-TOOTH DISEASE TYPE 2P Is also known as cmt2p|charcot-marie-tooth disease, axonal, type 2g, formerly|cmt2g, formerly|charcot-marie-tooth neuropathy, type 2p

Related symptoms:

  • Ataxia
  • Muscle weakness
  • Pain
  • Peripheral neuropathy
  • Skeletal muscle atrophy


SOURCES: OMIM ORPHANET MENDELIAN

More info about CHARCOT-MARIE-TOOTH DISEASE TYPE 2P

Low match PREMATURE OVARIAN FAILURE 1; POF1


Premature ovarian failure is clearly a heterogeneous disorder. The terms 'hypergonadotropic ovarian failure' and 'hypergonadotropic ovarian dysgenesis' (see ODG1, {233300}) have been used to indicate a group of disorders in which amenorrhea associated with elevated levels of serum gonadotropins occurs long before the age of 40 years (Coulam, 1982). Cytogenetic studies of X-chromosome aberrations have suggested that it is mainly the long arm of the X chromosome that is involved in defects of ovulation (Bione et al., 1998). ReviewsRossetti et al. (2017) reviewed the genetics of primary ovarian insufficiency, noting that the significance of this disorder was increasing because of the increasing number of women desiring conception beyond 30 years of age, at which point POF prevalence is more than 1%. Genetic Heterogeneity of Premature Ovarian FailureMutations in genes identified within a region defined as POF2 (Xq13.3-q21.1) have been found to cause other forms of POF: POF2A (OMIM ) by mutation in the DIAPH2 gene (OMIM ) and POF2B (OMIM ) by mutation in the POF1B gene (OMIM ). See also POF3 (OMIM ), caused by mutation in the FOXL2 gene (OMIM ) on chromosome 3q22; POF4 (see {300510}), caused by mutation in the BMP15 gene (OMIM ) on chromosome Xp11; POF5 (OMIM ), caused by mutation in the NOBOX gene (OMIM ) on chromosome 7q35; POF6 (OMIM ), caused by mutation in the FIGLA gene (OMIM ) on chromosome 2p13; POF7 (OMIM ), caused by mutation in the NR5A1 gene (OMIM ) on chromosome 9q33; POF8 (OMIM ), caused by mutation in the STAG3 gene (OMIM ) on chromosome 7q22; POF9 (OMIM ), caused by mutation in the HFM1 gene (OMIM ) on chromosome 1p22; POF10 (OMIM ), caused by mutation in the MCM8 gene (OMIM ) on chromosome 20p12; POF11 (OMIM ), caused by mutation in the ERCC6 gene (OMIM ) on chromosome 10q11; POF12 (OMIM ), caused by mutation in the SYCE1 gene (OMIM ) on chromosome 10q26; POF13 (OMIM ), caused by mutation in the MSH5 gene (OMIM ) on chromosome 6p21; and POF14 (OMIM ), caused by mutation in the GDF9 gene (OMIM ) on chromosome 5q31.In 100 patients with primary or secondary amenorrhea before the age of 40 years, who also exhibited elevated FSH, Bouilly et al. (2016) screened for variants in 19 POF-associated or candidate genes. The authors noted that 8 of the 19 mutation-positive patients carried a genetic defect in more than 1 gene, and that patients with 2 or more variants tended to have a younger age of onset and were more likely have primary rather than secondary amenorrhea. Bouilly et al. (2016) suggested that digenicity and possibly oligogenicity may contribute to POF, noting that this might account for the phenotypic variability and incomplete penetrance that have been observed in patients with POF.

PREMATURE OVARIAN FAILURE 1; POF1 Is also known as ovarian failure, premature|pof|primary ovarian insufficiency, fragile x-associated|pofx|hypergonadotropic ovarian failure, x-linked|premature ovarian failure, x-linked|fragile x premature ovarian failure

Related symptoms:

  • Intellectual disability
  • High palate
  • Abnormality of metabolism/homeostasis
  • Sparse hair
  • Autoimmunity


SOURCES: ORPHANET OMIM MENDELIAN

More info about PREMATURE OVARIAN FAILURE 1; POF1

Low match AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2K


Autosomal dominant Charcot-Marie-Tooth disease, type 2K (CMT2K) is an axonal CMT peripheral sensorimotor polyneuropathy.

AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2K Is also known as cmt2k

Related symptoms:

  • Motor delay
  • Skeletal muscle atrophy
  • Gait disturbance
  • Arrhythmia
  • Proximal muscle weakness


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2K

Low match BENIGN FAMILIAL NEONATAL EPILEPSY


Benign familial neonatal epilepsy (BFNE) is a rare genetic epilepsy syndrome characterized by the occurrence of afebrile seizures in otherwise healthy newborns with onset in the first few days of life.

BENIGN FAMILIAL NEONATAL EPILEPSY Is also known as bfns|benign familial neonatal convulsions|benign familial neonatal seizures

Related symptoms:

  • Seizures
  • Cognitive impairment
  • Hypertonia


SOURCES: ORPHANET MENDELIAN

More info about BENIGN FAMILIAL NEONATAL EPILEPSY

Low match PRIMARY PIGMENTED NODULAR ADRENOCORTICAL DISEASE


Primary pigmented nodular adrenocortical disease (PPNAD) is a form of bilateral adrenocortical hyperplasia that is often associated with adrenocorticotrophin hormone (ACTH) independent Cushing syndrome (see this term) and is characterized by small to normal sized adrenal glands containing multiple small cortical pigmented nodules (less than 1 cm in diameter).

PRIMARY PIGMENTED NODULAR ADRENOCORTICAL DISEASE Is also known as ppnad|primary pigmented nodular adrenal dysplasia|cushing syndrome, adrenal, due to ppnad3

Related symptoms:

  • Short stature
  • Muscle weakness
  • Hypertension
  • Skeletal muscle atrophy
  • Fatigue


SOURCES: ORPHANET OMIM MENDELIAN

More info about PRIMARY PIGMENTED NODULAR ADRENOCORTICAL DISEASE

Top 5 symptoms//phenotypes associated to Muscle weakness and Abnormality of the genital system

Symptoms // Phenotype % cases
Skeletal muscle atrophy Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Peripheral neuropathy Uncommon - Between 30% and 50% cases
Distal sensory impairment Uncommon - Between 30% and 50% cases
Distal muscle weakness Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Muscle weakness and Abnormality of the genital system. may also develop some of the following symptoms:

Rare Symptoms - Less than 30% cases


Amenorrhea Secondary amenorrhea Intellectual disability Sensory neuropathy Decreased nerve conduction velocity Areflexia Hyporeflexia Fatigable weakness Proximal muscle weakness Premature ovarian insufficiency Webbed neck Autoimmunity Sparse hair Abnormality of metabolism/homeostasis Gonadal dysgenesis Primary adrenal insufficiency Increased circulating gonadotropin level Menstrual irregularities Hypergalactosemia Motor delay High palate Gait disturbance Arrhythmia Facial palsy Peripheral demyelination Hypogonadism Slender build Adrenal hyperplasia Increased circulating cortisol level Striae distensae Increased susceptibility to fractures Thin skin Diabetes mellitus Osteoporosis Hand muscle atrophy Myopathy Fatigue Hypertension Axonal degeneration/regeneration Hypertonia Cognitive impairment Seizures Peripheral axonal degeneration Steppage gait Impaired distal vibration sensation Delayed skeletal maturation Ataxia Hypothalamic hypothyroidism Hoarse voice Dry skin Hypothyroidism Constipation Paralysis Pes cavus Global developmental delay Increased muscle glycogen content Hyperuricemia Myotonia Anemia Lower limb muscle weakness Fever Pain Gait ataxia Progressive distal muscle weakness Toe walking Difficulty standing Decreased number of peripheral myelinated nerve fibers Axonal degeneration Impotence Decreased motor nerve conduction velocity Interstitial pulmonary abnormality Hammertoe Difficulty walking Foot dorsiflexor weakness Sensorimotor neuropathy Fasciculations Sensory impairment Distal amyotrophy Peripheral axonal neuropathy Abnormality of the foot Pigmented micronodular adrenocortical disease



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