Myopathy, and Subcutaneous nodule

Diseases related with Myopathy and Subcutaneous nodule

In the following list you will find some of the most common rare diseases related to Myopathy and Subcutaneous nodule that can help you solving undiagnosed cases.


Top matches:

Medium match MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB; MEN2B


Multiple endocrine neoplasia type IIB (MEN2B) is an autosomal dominant hamartoneoplastic syndrome characterized by aggressive medullary thyroid carcinoma (MTC), pheochromocytoma, mucosal neuromas, and thickened corneal nerves. Most affected individuals have characteristic physical features, including full lips, thickened eyelids, high-arched palate, and marfanoid habitus. Other more variable features include skeletal anomalies and gastrointestinal problems (review by Morrison and Nevin, 1996).For a discussion of genetic heterogeneity of multiple endocrine neoplasia (MEN), see MEN1 (OMIM ).

MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB; MEN2B Is also known as men iib|multiple endocrine neoplasia, type iii, formerly|wagenmann-froboese syndrome|men3, formerly|neuromata, mucosal, with endocrine tumors

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Neoplasm


SOURCES: OMIM MENDELIAN

More info about MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB; MEN2B

Medium match BANNAYAN-RILEY-RUVALCABA SYNDROME


Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare congenital disorder characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis.

BANNAYAN-RILEY-RUVALCABA SYNDROME Is also known as brrs|myhre-riley-smith syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Scoliosis


SOURCES: ORPHANET MENDELIAN

More info about BANNAYAN-RILEY-RUVALCABA SYNDROME

Medium match COWDEN SYNDROME


Cowden syndrome (CS) is a difficult to recognize, under-diagnosed genodermatosis characterized by the presence of multiple hamartomas in various tissues and an increased risk for malignancies of the breast, thyroid, endometrium, kidney and colorectum. When CS is accompanied by germline PTEN mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS; see this term) group.

COWDEN SYNDROME Is also known as bzs|cowden disease|bbrs|macrocephaly, multiple lipomas, and hemangiomata|pten hamartoma tumor syndrome with granular cell tumor|bannayan-zonana syndrome|macrocephaly, pseudopapilledema, and multiple hemangiomata|cs|cd|mham|pten hamartoma tumor syndrome|ri

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about COWDEN SYNDROME

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Other less relevant matches:

Medium match PROTEUS SYNDROME


Proteus syndrome (PS) is a very rare and complex hamartomatous overgrowth disorder characterized by progressive overgrowth of the skeleton, skin, adipose, and central nervous systems.

PROTEUS SYNDROME Is also known as partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome|gigantism, partial, of hands and feet, nevi, hemihypertrophy, and macrocephaly

Related symptoms:

  • Intellectual disability
  • Seizures
  • Scoliosis
  • Hypertelorism
  • Nystagmus


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about PROTEUS SYNDROME

Low match GLYCOGEN STORAGE DISEASE IA; GSD1A


Glycogen storage disease type I, also known as von Gierke disease, typically manifests during the first year of life with severe hypoglycemia and hepatomegaly caused by the accumulation of glycogen. Affected individuals exhibit growth retardation, delayed puberty, lactic acidemia, hyperlipidemia, hyperuricemia, and in adults a high incidence of hepatic adenomas (summary by Lei et al., 1993).

GLYCOGEN STORAGE DISEASE IA; GSD1A Is also known as gsd1|hepatorenal form of glycogen storage disease|hepatorenal glycogenosis|glucose-6-phosphatase deficiency|gsd ia|von gierke disease|glycogen storage disease i

Related symptoms:

  • Seizures
  • Short stature
  • Growth delay
  • Neoplasm
  • Muscular hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE IA; GSD1A

Low match DISTAL MYOPATHY, WELANDER TYPE


Distal myopathy, Welander type (WDM) is a distal myopathy characterized by weakness in the distal upper extremities, usually finger and wrist extensors which later progresses to all hand muscles and distal lower extremity, primarily in toe and ankle extensors.

DISTAL MYOPATHY, WELANDER TYPE Is also known as wdm

Related symptoms:

  • Myopathy


SOURCES: ORPHANET MENDELIAN

More info about DISTAL MYOPATHY, WELANDER TYPE

Low match WELL-DIFFERENTIATED LIPOSARCOMA


Well-differentiated liposarcoma (WDLS), the most common type of liposarcoma (LS; see this term), is a slow growing, painless tumor usually located in the retroperitoneum or the limbs. It is composed of proliferating mature adipocytes.

WELL-DIFFERENTIATED LIPOSARCOMA Is also known as alt|atypical lipoma|wdls|atypical lipomatous tumor

Related symptoms:

  • Subcutaneous nodule
  • Gastrointestinal dysmotility
  • Abnormal renal physiology


SOURCES: ORPHANET MENDELIAN

More info about WELL-DIFFERENTIATED LIPOSARCOMA

Low match WINCHESTER SYNDROME; WNCHRS


Winchester syndrome presents with severe osteolysis in the hands and feet and generalized osteoporosis and bone thinning, similar to multicentric osteolysis, nodulosis, and arthropathy (MONA ), but subcutaneous nodules are characteristically absent. Various additional features including coarse face, corneal opacities, gum hypertrophy, and EKG changes have been reported (summary by Zankl et al., 2007).

Related symptoms:

  • Short stature
  • Flexion contracture
  • Severe short stature
  • Osteoporosis
  • Coarse facial features


SOURCES: OMIM MENDELIAN

More info about WINCHESTER SYNDROME; WNCHRS

Low match JUVENILE HYALINE FIBROMATOSIS


Juvenile hyaline fibromatosis (JHF) is a rare bone dysplasia, characterized by papulo-nodular skin lesions (especially around the head and neck), soft tissue masses, gingival hypertrophy, joint contractures, and osteolytic bone lesions in variable degrees. Joint contractures may cripple patients and delay normal motor development if occuring in infancy. Severe gingival hyperplasia can interfere with eating and delay dentition. Histopathology analysis of involved tissues reveals cords of spindle-shaped cells embedded in an amorphous, hyaline material. JHF is a mild form of infantile systemic hyalinosis (see this term).

JUVENILE HYALINE FIBROMATOSIS Is also known as puretic syndrome|murray-puretic-drescher syndrome|hyalinosis, systemic

Related symptoms:

  • Neoplasm
  • Failure to thrive
  • Pain
  • Flexion contracture
  • Skeletal muscle atrophy


SOURCES: OMIM ORPHANET MENDELIAN

More info about JUVENILE HYALINE FIBROMATOSIS

Low match INSULIN-RESISTANCE SYNDROME TYPE A


Type A insulin-resistance syndrome belongs to the group of extreme insulin-resistance syndromes (which includes leprechaunism, the lipodystrophies, Rabson-Mendenhall syndrome and type B insulin resistance syndrome; see these terms) and is characterized by the triad of hyperinsulinemia, acanthosis nigricans (skin lesions associated with insulin resistance), and signs of hyperandrogenism in females without lipodystrophy and who are not overweight.

INSULIN-RESISTANCE SYNDROME TYPE A Is also known as diabetes mellitus, insulin-resistant, with acanthosis nigricans, type a|insulin receptor, defect in, with insulin-resistant diabetes mellitus and acanthosis nigricans|iran, type a

Related symptoms:

  • Intellectual disability
  • Hypertelorism
  • Brachydactyly
  • Abnormality of the dentition
  • Intellectual disability, mild


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about INSULIN-RESISTANCE SYNDROME TYPE A

Top 5 symptoms//phenotypes associated to Myopathy and Subcutaneous nodule

Symptoms // Phenotype % cases
Neoplasm Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Recurrent infections Uncommon - Between 30% and 50% cases
Diarrhea Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Myopathy and Subcutaneous nodule. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Short stature Pain Scoliosis Carcinoma Global developmental delay Arteriovenous malformation Goiter Meningioma Skeletal muscle atrophy Osteoporosis Macrocephaly Hypertelorism Lipoma Coarse facial features Hamartoma Macrotia Multiple cafe-au-lait spots Pectus excavatum Kyphosis Multiple lipomas Muscular hypotonia

Rare Symptoms - Less than 30% cases


Failure to thrive Intellectual disability, mild Downslanted palpebral fissures Myopia Brachydactyly Cognitive impairment Low-set ears Cataract Intestinal polyposis Lymphedema Hamartomatous polyposis Visceral angiomatosis Cachexia Irregular hyperpigmentation Intracranial hemorrhage Cutis marmorata Capillary hemangioma Hashimoto thyroiditis Immunodeficiency Overgrowth Headache Prolactin excess Growth abnormality Thickened skin Epidermal acanthosis Decreased muscle mass Generalized hyperpigmentation Carious teeth Joint stiffness Macroorchidism Hyperkeratosis Neoplasm of the central nervous system Generalized hyperkeratosis Enlarged polycystic ovaries Long penis Osteopenia Papilledema Generalized hirsutism Arthritis Delayed puberty Ovarian neoplasm Melanocytic nevus Palmoplantar hyperkeratosis Hemangioma Lymphopenia Chronic diarrhea Flexion contracture Decreased antibody level in blood Macroglossia Polymicrogyria Papule Intellectual disability, moderate Telangiectasia Venous thrombosis Broad thumb Muscle weakness Generalized hypotonia Abnormal facial shape Ptosis High palate Visual loss Constipation Proptosis Lymphoma Disproportionate tall stature Neurofibromas Thyroid carcinoma Colonic diverticula Micrognathia Cafe-au-lait spot Frontal bossing Dolichocephaly Gingival overgrowth Hypoglycemia Osteolysis Anteverted nares Nevus Macrodactyly Thymus hyperplasia Nevus sebaceous Facial hyperostosis Reduced number of teeth Narrow internal auditory canal Sirenomelia Lipodystrophy Bronchogenic cyst Portal vein thrombosis Calvarial hyperostosis Metatarsus valgus Epidermal nevus Lymphangioma Testicular neoplasm Upper limb asymmetry Retinal hamartoma Retinal nonattachment Growth hormone excess Abnormality of the metacarpal bones Renal insufficiency Hepatomegaly Hypertension Anemia Growth delay Polycystic ovaries Mandibular hyperostosis Hyperinsulinemia Abnormal subcutaneous fat tissue distribution Hypertrophy of skin of soles Depigmentation/hyperpigmentation of skin Increased number of teeth Insulin-resistant diabetes mellitus Connective tissue nevi Central heterochromia Neoplasm of the thymus Keloids Nephrogenic diabetes insipidus Chorioretinal coloboma Spinal canal stenosis Abnormality of finger Spinal cord compression Corneal opacity Exostoses Neoplasm of the lung Abnormal lung lobation Pulmonary embolism Hypocitraturia Menstrual irregularities Pericardial effusion Hallux valgus Severe short stature Diabetes insipidus Gastrointestinal dysmotility Hyperostosis Abnormality of the wrist Ketoacidosis Epibulbar dermoid Myofibrillar myopathy Venous malformation Recurrent respiratory infections Vascular skin abnormality Asymmetry of the thorax Asymmetric growth Thick nasal alae Thin bony cortex Buphthalmos Deep venous thrombosis Arterial thrombosis Anisocytosis Hemihypertrophy Abnormality of the neck Lower limb asymmetry Varicose veins Abnormal renal physiology Thrombophlebitis Accelerated skeletal maturation Acanthosis nigricans Abnormality of the gastrointestinal tract Elbow flexion contracture Aplasia/Hypoplasia of the skin Abnormality of the skull Pyelonephritis Enterocolitis Skeletal myopathy Severe failure to thrive Arthropathy Microalbuminuria Fasting hypoglycemia Gingival fibromatosis Abnormal diaphysis morphology Neoplasm of the liver Xanthomatosis Gout Intractable diarrhea Hypoglycemic seizures Cardiac arrest Hepatocellular carcinoma Chronic pancreatitis Hepatocellular adenoma Doll-like facies Generalized osteoporosis Osteolysis involving bones of the feet Lipemia retinalis Osteolysis involving bones of the upper limbs Distal renal tubular acidosis Chronic hepatitis Skin ulcer Hepatoblastoma Decreased glomerular filtration rate Intermittent diarrhea Xanthelasma Respiratory distress Abnormality of the face Abnormality of the hair Enlarged kidney Progressive flexion contractures Acidosis Nephropathy Epistaxis Hepatitis Muscle cramps Full cheeks Abnormal bleeding Metabolic acidosis Hematuria Hepatic failure Hirsutism Lactic acidosis Narrow forehead Proteinuria Type II diabetes mellitus Elevated hepatic transaminase Hypertrichosis Insulin resistance Hypertriglyceridemia Nephrolithiasis Protuberant abdomen Diabetes mellitus Renal tubular acidosis Rheumatoid arthritis Hyperuricemia Prolonged bleeding time Focal segmental glomerulosclerosis Abnormality of the dentition Obesity Portal hypertension Nephrocalcinosis Mandibular prognathia Glomerulosclerosis Elevated alkaline phosphatase Hypercalciuria Chronic kidney disease Atherosclerosis Pancreatitis Hyperlipidemia Breathing dysregulation Trichilemmoma Abnormality of dental enamel Abnormal large intestine morphology Hydrocephalus Tremor Motor delay Delayed speech and language development Ataxia Hearing impairment Neoplasm of the adrenal cortex Uterine neoplasm Dilatation Abdominal wall muscle weakness Subcutaneous hemorrhage Neoplasm of the breast Angina pectoris Abnormality of the optic nerve Aortic aneurysm Delayed gross motor development Narrow palate Atrial septal defect Autism Wide nose Intention tremor Melanoma Hypopigmented skin patches Increased intracranial pressure Drooling Cranial nerve paralysis Neoplasm of the skin Gynecomastia Exotropia Abnormal cerebellum morphology Narrow mouth Hypoplasia of the maxilla Palmoplantar keratoderma Joint hypermobility Nausea and vomiting Leukemia Abnormality of the kidney Proximal muscle weakness Hypothyroidism Tall stature Joint hyperflexibility Incoordination Abnormality of the skin Flushing Freckling Acne Failure to thrive in infancy Aganglionic megacolon Hemiparesis Thick lower lip vermilion Polyneuropathy Achalasia High, narrow palate Thick vermilion border Thick eyebrow Hyperlordosis Joint laxity Photophobia Pes cavus Abnormality of the skeletal system Neoplasm of the endocrine system Pheochromocytoma Neurological speech impairment Subcutaneous neurofibromas Delayed skeletal maturation Long philtrum Short nose Multiple mucosal neuromas Ganglioneuromatosis Prominent corneal nerve fibers Inguinal freckling Elevated urinary epinephrine Neuroma Parathyroid hyperplasia Proximal femoral epiphysiolysis Abnormality of the parathyroid gland Nodular goiter Elevated calcitonin Schizencephaly Ganglioneuroma Medullary thyroid carcinoma Lisch nodules Breast carcinoma Dysdiadochokinesis Abnormality of the nail Depressed nasal bridge Abdominal pain Clinodactyly of the 5th finger Abnormality of cardiovascular system morphology Syndactyly Splenomegaly Optic atrophy Fever Strabismus Kyphoscoliosis Nystagmus Lobular carcinoma in situ Multiple trichilemmomata Merkel cell skin cancer Ductal carcinoma in situ Conjunctival hamartoma Dysplastic gangliocytoma of the cerebellum Enlarged cerebellum Glaucoma Skeletal dysplasia Fibroadenoma of the breast Gliosis Abnormal vertebral morphology Sinusitis Abnormality of retinal pigmentation Heterotopia Abnormal form of the vertebral bodies Open mouth High myopia Round face Sudden cardiac death Craniosynostosis Abdominal distention Renal cyst Long face Abnormality of skin pigmentation Confusion Facial asymmetry Hip dislocation Finger syndactyly Cutis marmorata telangiectatica congenita Neoplasm of the thyroid gland Hand polydactyly Scaphocephaly Astrocytoma Abnormality of the uterus Furrowed tongue Hydrocele testis Megalencephaly Skin tags Abnormality of the vasculature Renal cell carcinoma Bone cyst Hodgkin lymphoma Thyroiditis Hyperthyroidism Acute myeloid leukemia Cellulitis Cystic hygroma Abnormality of the thyroid gland Macule Ovarian cyst Cellular immunodeficiency Transitional cell carcinoma of the bladder Thyroid adenoma Acrokeratosis Mucosal telangiectasiae Pseudopapilledema Progressive macrocephaly Colorectal polyposis Endometrial carcinoma Follicular thyroid carcinoma Varicocele Intestinal polyp Cavernous hemangioma Ovarian carcinoma Angioid streaks of the fundus Abnormality of the penis Subcutaneous lipoma Adenoma sebaceum Decreased proportion of CD4-positive T cells Fibroma Papilloma Generalized hypertrichosis



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