Peripheral neuropathy, and Osteoporosis

Diseases related with Peripheral neuropathy and Osteoporosis

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


Top 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 CONGENITAL BILE ACID SYNTHESIS DEFECT TYPE 1


Congenital bile acid synthesis defect type 1 (BAS defect type 1) is the most common anomaly of bile acid synthesis (see this term) characterized by variable manifestations of progressive cholestatic liver disease, and fat malabsorption.

CONGENITAL BILE ACID SYNTHESIS DEFECT TYPE 1 Is also known as basd1|3-beta-hydroxy-delta-5-c27-steroid oxidoreductase deficiency

Related symptoms:

  • Failure to thrive
  • Peripheral neuropathy
  • Hepatomegaly
  • Diarrhea
  • Splenomegaly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CONGENITAL BILE ACID SYNTHESIS DEFECT TYPE 1

Low match SYMPTOMATIC FORM OF HEMOCHROMATOSIS TYPE 1


Symptomatic form of hemochromatosis type 1 is a rare, hereditary hemochromatosis characterized by inappropriately regulated intestinal iron absorption which leads to excessive iron storage in various organs and manifests with a wide range of signs and symptoms, including abdominal pain, weakness, lethargy, weight loss, elevated serum aminotransferase levels, increase in skin pigmentation, and/or arthropathy in the metacarpophalangeal joints. Other commonly associated manifestations include hepatomegaly, cirrhosis, liver fibrosis, hepatocellular carcinoma, restrictive cardiomyopathy and/or diabetes mellitus.

SYMPTOMATIC FORM OF HEMOCHROMATOSIS TYPE 1 Is also known as symptomatic form of hfe-related hereditary hemochromatosis|symptomatic form of classic hemochromatosis

Related symptoms:

  • Peripheral neuropathy
  • Hepatomegaly
  • Fatigue
  • Cardiomyopathy
  • Congestive heart failure


SOURCES: ORPHANET MENDELIAN

More info about SYMPTOMATIC FORM OF HEMOCHROMATOSIS TYPE 1

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

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 PEROXISOME BIOGENESIS DISORDER 3B; PBD3B


The overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) represent the milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy, and visual impairment. Children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood (summary by Waterham and Ebberink, 2012).For a complete phenotypic description and a discussion of genetic heterogeneity of PBD(NALD/IRD), see {601539}.Individuals with mutations in the PEX12 gene have cells of complementation group 3 (CG3). For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 3B; PBD3B

Low match MASTOCYTOSIS, CUTANEOUS; MASTC


Mastocytosis, or mast cell disease, is a heterogeneous group of clinical disorders characterized by the abnormal accumulation of mast cells in various tissues, especially in the skin and hematopoietic organs. Mastocytosis usually appears in infancy or early adulthood. In most pediatric cases, the disease is limited to the skin, but it can be associated with systemic symptoms due to the release of mediators from mast cells, even when there is no systemic infiltration. It usually has a good prognosis, with substantial improvement or spontaneous resolution before puberty. In rare cases, the disease may remain active through adolescence as a systemic adult mastocytosis. Cutaneous mastocytosis is characterized by macules, papules, nodules, or diffuse infiltration of the skin, often associated with localized hyperpigmentation. Gentle rubbing of the lesions induces histamine release from mechanically activated mast cells, causing local wheals, erythema, and often pruritus, a phenomenon termed the 'Darier sign.' In contrast to childhood-onset mastocytosis, adult-onset mastocytosis often persists for the lifetime of the patient and is also more likely to be a severe and systemic disease involving numerous organs. In some cases, it is associated with a clonal hematologic non-mast-cell lineage disease, such as a myelodysplastic or myeloproliferative disorder. Adult-onset mastocytosis can also lead to the rare mast cell leukemia, which carries a high risk of mortality (summary by Bodemer et al., 2010 and Kambe et al., 2010).

MASTOCYTOSIS, CUTANEOUS; MASTC Is also known as mastocytosis, maculopapular cutaneous|mastocytosis, diffuse cutaneous|urticaria pigmentosa

Related symptoms:

  • Neoplasm
  • Pain
  • Anemia
  • Hypertension
  • Hepatomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about MASTOCYTOSIS, CUTANEOUS; MASTC

Low match STÜVE-WIEDEMANN SYNDROME


Stüve-Wiedemann syndrome (SWS) is a rare autosomal recessive congenital primary skeletal dysplasia, characterized by small stature, bowing of the long bones, camptodactyly, hyperthermic episodes, respiratory distress/apneic episodes and feeding difficulties that usually lead to early mortality.

STÜVE-WIEDEMANN SYNDROME Is also known as neonatal schwartz-jampel syndrome|stÜve-wiedemann dysplasia|sjs2|schwartz-jampel syndrome type 2

Related symptoms:

  • Short stature
  • Scoliosis
  • Muscular hypotonia
  • Flexion contracture
  • Intrauterine growth retardation


SOURCES: ORPHANET MENDELIAN

More info about STÜVE-WIEDEMANN SYNDROME

Low match PACHYDERMOPERIOSTOSIS


Pachydermoperiostosis (PDP) is a form of primary hypertrophic osteoarthropathy (see this term), a rare hereditary disorder, and is characterized by digital clubbing, pachydermia and subperiosteal new bone formation associated with pain, polyarthritis, cutis verticis gyrata, seborrhea and hyperhidrosis. Three forms have been described: a complete form with pachydermia and periostitis, an incomplete form with evidence of bone abnormalities but lacking pachydermia, and a forme frusta with prominent pachydermia and minimal-to-absent skeletal changes.

PACHYDERMOPERIOSTOSIS Is also known as touraine-solente-gole syndrome|pdp

Related symptoms:

  • Scoliosis
  • Ptosis
  • Anemia
  • Hepatomegaly
  • Edema


SOURCES: ORPHANET MENDELIAN

More info about PACHYDERMOPERIOSTOSIS

Low match NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA; HSAN2A


NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA; HSAN2A Is also known as acroosteolysis, neurogenic|neuropathy, hereditary sensory radicular, autosomal recessive|acroosteolysis, giaccai type|neuropathy, progressive sensory, of children|neuropathy, hereditary sensory, type iia|hsan iia|hsn iia|morvan disease|neuropathy, congeni

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Muscular hypotonia
  • Pain
  • Peripheral neuropathy


SOURCES: OMIM MENDELIAN

More info about NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA; HSAN2A

Low match CELIAC DISEASE, SUSCEPTIBILITY TO, 1; CELIAC1


Celiac disease, also known as celiac sprue and gluten-sensitive enteropathy (GSE), is a multifactorial disorder of the small intestine that is influenced by both environmental and genetic factors. It is characterized by malabsorption resulting from inflammatory injury to the mucosa of the small intestine after the ingestion of wheat gluten or related rye and barley proteins (summary by Farrell and Kelly, 2002). Long regarded as gastrointestinal disorder of childhood, the disease is now considered to be a chronic systemic autoimmune disease and is more often diagnosed in adults than in children (Monsuur et al., 2005).For a discussion of genetic heterogeneity of celiac disease, see MAPPING.

CELIAC DISEASE, SUSCEPTIBILITY TO, 1; CELIAC1 Is also known as celiac sprue, susceptibility to, 1|gluten-sensitive enteropathy, susceptibility to, 1

Related symptoms:

  • Seizures
  • Short stature
  • Ataxia
  • Failure to thrive
  • Anemia


SOURCES: OMIM MENDELIAN

More info about CELIAC DISEASE, SUSCEPTIBILITY TO, 1; CELIAC1

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

Symptoms // Phenotype % cases
Hepatomegaly Uncommon - Between 30% and 50% cases
Polyneuropathy Uncommon - Between 30% and 50% cases
Malabsorption Uncommon - Between 30% and 50% cases
Arthralgia Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Splenomegaly Diarrhea Steatorrhea Anemia Gastrointestinal hemorrhage Limitation of joint mobility Hyporeflexia Areflexia Fatigue Cirrhosis Muscular hypotonia Ataxia Hyperhidrosis Infertility Sensory neuropathy Short stature Failure to thrive Gynecomastia Osteolysis

Rare Symptoms - Less than 30% cases


Talipes equinovarus Dysarthria Hearing impairment Rod-cone dystrophy Intellectual disability Ptosis Nystagmus Sensorineural hearing impairment Chronic diarrhea Abnormal blistering of the skin Generalized hypotonia Hypotension Impaired temperature sensation Apnea Feeding difficulties in infancy Paresthesia Hypohidrosis Abnormal autonomic nervous system physiology Bone pain Asthma Osteomyelitis Recurrent fractures Abnormal cortical bone morphology Decreased corneal reflex Gastroesophageal reflux Weight loss Abdominal pain Edema Pain Arthropathy Delayed puberty Abnormal bleeding Pruritus Hepatosplenomegaly Alopecia Primary amenorrhea Cholestasis Abnormality of the coagulation cascade Vertigo Rickets Hypocholesterolemia Elevated hepatic transaminase Ascites Thickened cortex of long bones Ectopic thyroid Lacrimation abnormality Iron deficiency anemia Flexion contracture of finger Trismus Smooth tongue Absent patellar reflexes Thyroiditis Autoimmunity IgA deficiency Coarse facial features Arthritis Small hand Palmoplantar keratoderma Macrocytic anemia Thickened skin Abnormality of epiphysis morphology Abnormality of the fingernails Neoplasm of the skin Cerebral palsy Genu varum Episodic fever Metaphyseal widening Impaired pain sensation Micromelia Flexion contracture Intrauterine growth retardation Respiratory distress Abnormality of the dentition Vitamin K deficiency Vitamin D deficiency Hypothyroidism Osteopenia Skeletal dysplasia Abnormality of the eye Folate deficiency Camptodactyly of finger Genu valgum Abnormality of the abdominal wall Thrombocytosis Oligohydramnios Abnormality of the metaphysis Bowing of the long bones Prolonged prothrombin time Elbow flexion contracture Recurrent aphthous stomatitis Knee flexion contracture Stomatitis Sacral dimple Prolonged partial thromboplastin time Abnormality of vision Celiac disease Chronic fatigue Acne Neoplasm of the lung Aseptic necrosis Episodic hyperhidrosis Chronic infection Decreased sensory nerve conduction velocity Paronychia Spontaneous abortion Type I diabetes mellitus Decreased taste sensation Painless fractures due to injury Acral ulceration Hypocalcemia Hypoplasia of dental enamel Autoamputation of digits Neuropathic arthropathy Inflammatory abnormality of the skin Osteolytic defects of the phalanges of the hand Foot acroosteolysis Ainhum Eczema Cerebral calcification Lymphoma Nevus Abdominal distention Mononeuropathy Seizures Vomiting Depressivity Anxiety Irritability Generalized osteoporosis Self-mutilation Joint swelling Hyperkeratosis Growth hormone excess Postnatal growth retardation Abnormal hair pattern Seborrheic dermatitis Peptic ulcer Abnormal hair quantity Eczematoid dermatitis Abnormality of bone marrow cell morphology Cutis gyrata of scalp Clubbing of toes Recurrent infections Abnormality of metabolism/homeostasis Urinary incontinence Chronic leukemia Peripheral demyelination Malnutrition Foot dorsiflexor weakness Sleep apnea Decreased nerve conduction velocity Clubbing Oral-pharyngeal dysphagia Epiphora Anhidrosis Axonal degeneration Abnormal intestine morphology Orthostatic hypotension Decreased number of peripheral myelinated nerve fibers Telangiectasia macularis eruptiva perstans Cryptorchidism Anaphylactic shock Gait ataxia Increased serum ferritin Chondrocalcinosis Abnormality of the hypothalamus-pituitary axis Abnormal facial shape Spasticity Cognitive impairment High palate Motor delay Short neck Cerebellar atrophy Intellectual disability, mild Cerebellar hypoplasia Pes cavus Abnormality of the nervous system Hepatocellular carcinoma Mental deterioration Ophthalmoplegia Dysmetria Peripheral axonal neuropathy Amenorrhea Sensorimotor neuropathy Hyperkinesis Bilateral ptosis Hammertoe Spastic diplegia Secondary amenorrhea Gonadal dysgenesis Severe sensorineural hearing impairment Exocrine pancreatic insufficiency Impotence Retinal atrophy Hepatitis Inguinal hernia Muscle cramps Nephrolithiasis Male pseudohermaphroditism Aplasia of the uterus Absent axillary hair Absent pubic hair Testicular gonadoblastoma Aplasia/Hypoplasia of the fallopian tube Jaundice Abnormality of the liver Nyctalopia Hepatic failure Hyperbilirubinemia Joint dislocation Abnormality of coagulation Intrahepatic cholestasis Biliary tract abnormality Giant cell hepatitis Acholic stools Neonatal cholestatic liver disease Cardiomyopathy Congestive heart failure Hypogonadism Diabetes mellitus Retinopathy Hepatic steatosis Hyperpigmentation of the skin Increased circulating gonadotropin level Amelogenesis imperfecta Cutaneous mastocytosis Abnormality of blood and blood-forming tissues Nausea Tachycardia Sudden cardiac death Tremor Telangiectasia Bone marrow hypocellularity Leukopenia Shock Sarcoma Urticaria Portal hypertension Loss of consciousness Hypermelanotic macule Acute leukemia Lymphadenopathy Flushing Allergy Generalized osteosclerosis Myeloproliferative disorder Hypersplenism Gastrointestinal stroma tumor Immunologic hypersensitivity Asthenia Abnormal eosinophil morphology Food intolerance Abnormality of the gastric mucosa Mastocytosis Dermatographic urticaria Ichthyosis Nausea and vomiting Decreased serum testosterone level Retinal dystrophy Titubation Progressive peripheral neuropathy Limited extraocular movements Internuclear ophthalmoplegia Global developmental delay Hypertelorism Strabismus Cataract Visual impairment Wide nasal bridge Malar flattening Dry skin Flat face Single transverse palmar crease Papule Depressed nasal ridge Decreased liver function Abnormal electroretinogram Esodeviation Very long chain fatty acid accumulation Neoplasm Hypertension Headache Thrombocytopenia Arrhythmia Myalgia Erythema Skin rash Leukemia Vitamin B12 deficiency



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Spasticity and Hypotension, related diseases and genetic alterations Spasticity and Schizophrenia, related diseases and genetic alterations Cognitive impairment and Jaundice, related diseases and genetic alterations Peripheral neuropathy and Acute leukemia, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more