Muscle weakness, and Nephrolithiasis

Diseases related with Muscle weakness and Nephrolithiasis

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


Top matches:

Low match RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL DOMINANT


RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL DOMINANT Is also known as rta, distal type, autosomal dominant|renal tubular acidosis i|rta, gradient type|rta, classic type

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Muscle weakness
  • Acidosis
  • Postnatal growth retardation


SOURCES: OMIM MENDELIAN

More info about RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL DOMINANT

Low match FAMILIAL HYPOCALCIURIC HYPERCALCEMIA TYPE 3


FAMILIAL HYPOCALCIURIC HYPERCALCEMIA TYPE 3 Is also known as familial benign hypercalcemia, type iii|fbh3|hypercalcemia, familial benign, type iii|fhh type 3|hypercalcemia, familial benign, oklahoma type

Related symptoms:

  • Muscle weakness
  • Pain
  • Fatigue
  • Behavioral abnormality
  • Renal insufficiency


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about FAMILIAL HYPOCALCIURIC HYPERCALCEMIA TYPE 3

Mendelian

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

Learn more

Other less relevant matches:

Low match HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY; HHRH


Hereditary hypophosphatemic rickets with hypercalciuria is a rare autosomal recessive disorder characterized by the presence of hypophosphatemia secondary to renal phosphate wasting, radiographic and/or histologic evidence of rickets, limb deformities, muscle weakness, and bone pain. HHRH is distinct from other forms of hypophosphatemic rickets in that affected individuals present with hypercalciuria due to increased serum 1,25-dihydroxyvitamin D levels and increased intestinal calcium absorption (summary by Bergwitz et al., 2006).

HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY; HHRH Is also known as hypercalciuric rickets

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Growth delay
  • Failure to thrive
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY; HHRH

Low match STIFF SKIN SYNDROME


Stiff skin syndrome is a rare, slowly progressive cutaneous disease characterized by rock-hard skin bound firmly to the underlying tissues (mainly on the shoulders, lower back, buttocks and thighs), mild hypertrichosis and hyperpigmentation overlying the affected areas of skin, as well as limited joint mobility (mainly of large joints) with flexion contractures. Cutaneous nodules, affecting mostly distal interphalangeal joints, as well as extracutaneous manifestations, including diffuse entrapment neuropathy, scoliosis, a tiptoe gait and a narrow thorax, may be associated. Restrictive pulmonary changes, muscle weakness, short stature and growth delay have also been reported. No vascular hyperreactivity, immunologic abnormalities nor visceral, muscular or bone involvement has been described.

Related symptoms:

  • Short stature
  • Scoliosis
  • Strabismus
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about STIFF SKIN SYNDROME

Low match SULFITE OXIDASE DEFICIENCY DUE TO MOLYBDENUM COFACTOR DEFICIENCY TYPE A


Molybdenum cofactor deficiency (MOCOD) is a rare autosomal recessive metabolic disorder characterized by onset in infancy of poor feeding, intractable seizures, and severe psychomotor retardation. Characteristic biochemical abnormalities include decreased serum uric acid and increased urine sulfite levels due to the combined enzymatic deficiency of xanthine dehydrogenase (XDH ) and sulfite oxidase (SUOX ), both of which use molybdenum as a cofactor. Most affected individuals die in early childhood (summary by Reiss, 2000; Reiss et al., 2011). Genetic Heterogeneity of Molybdenum Cofactor DeficiencySee also MOCOD, complementation group B (MOCODB ), caused by mutation in the MOCS2 gene (OMIM ) on chromosome 5q11; and MOCOD, complementation group C (MOCODC ), caused by mutation in the GPHN gene (OMIM ) on chromosome 14q24.

SULFITE OXIDASE DEFICIENCY DUE TO MOLYBDENUM COFACTOR DEFICIENCY TYPE A Is also known as sulfite oxidase, xanthine dehydrogenase, and aldehyde oxidase, combined deficiency of|combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type a|mocod type a

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about SULFITE OXIDASE DEFICIENCY DUE TO MOLYBDENUM COFACTOR DEFICIENCY TYPE A

Low match HYPERPARATHYROIDISM-JAW TUMOR SYNDROME


Hyperparathyroidism-jaw tumor syndrome is a rare autosomal dominant disorder characterized by synchronous or metachronous occurrence of primary hyperparathyroidism, ossifying fibroma of the maxilla and/or mandible, renal tumor, and uterine tumors. It is associated with increased risk of parathyroid cancer (summary by Shibata et al., 2015).For a discussion of genetic heterogeneity of hyperparathyroidism, see HRPT1 (OMIM ).

HYPERPARATHYROIDISM-JAW TUMOR SYNDROME Is also known as hyperparathyroidism-jaw tumor syndrome, hereditary|hyperparathyroidism, familial primary, with multiple ossifying jaw fibromas|hpt-jt

Related symptoms:

  • Neoplasm
  • Muscle weakness
  • Pain
  • Fatigue
  • Dysphagia


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPERPARATHYROIDISM-JAW TUMOR SYNDROME

Low match PARATHYROID CARCINOMA


Parathyroid carcinoma (PRTC) is a very rare, slow-growing, clinically serious endocrine tumor that generally develops in mid-adulthood. PRTC presents as a palpable painless mass in the neck and causes severe hypercalcemia and related symptoms, non-specific gastrointestinal manifestations, as well as renal and bone complications related to primary hyperparathyroidism (nephrolithiasis, impaired renal function, osteoporosis, bone pain, and pathologic fractures, etc.). Some PRTCs are however non-functioning tumors.

PARATHYROID CARCINOMA Is also known as prtc

Related symptoms:

  • Neoplasm
  • Muscle weakness
  • Pain
  • Fatigue
  • Dysphagia


SOURCES: ORPHANET OMIM MENDELIAN

More info about PARATHYROID CARCINOMA

Low match AUTOSOMAL DOMINANT HYPOCALCEMIA


Autosomal dominant hypocalcemia (AD hypocalcemia) is a disorder of calcium homeostasis characterized by variable degrees of hypocalcemia with abnormally low levels of parathyroid hormone (PTH) and persistant normal or elevated calciuria.

AUTOSOMAL DOMINANT HYPOCALCEMIA Is also known as ad hypocalcemia|hypocalcemia, familial|hypercalciuric hypocalcemia

Related symptoms:

  • Seizures
  • Short stature
  • Optic atrophy
  • Fatigue
  • Congestive heart failure


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT HYPOCALCEMIA

Low match CUSHING SYNDROME DUE TO MACRONODULAR ADRENAL HYPERPLASIA


ACTH-independent macronodular adrenal hyperplasia (AIMAH) is a rare cause of Cushing syndrome (CS; see this term) characterized by nodular enlargement of both adrenal glands (multiple nodules above 1 cm in diameter) that produce excess cortisol and features of adrenocorticotropic hormone (ACTH) independent CS (see this term).

CUSHING SYNDROME DUE TO MACRONODULAR ADRENAL HYPERPLASIA Is also known as cushing disease, pituitary|primary bilateral macronodular adrenal hyperplasia

Related symptoms:

  • Neoplasm
  • Failure to thrive
  • Muscle weakness
  • Hypertension
  • Skeletal muscle atrophy


SOURCES: ORPHANET OMIM MENDELIAN

More info about CUSHING SYNDROME DUE TO MACRONODULAR ADRENAL HYPERPLASIA

Top 5 symptoms//phenotypes associated to Muscle weakness and Nephrolithiasis

Symptoms // Phenotype % cases
Fatigue Uncommon - Between 30% and 50% cases
Nephrocalcinosis Uncommon - Between 30% and 50% cases
Hypercalciuria Uncommon - Between 30% and 50% cases
Hypophosphatemia Uncommon - Between 30% and 50% cases
Pain Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Muscle weakness and Nephrolithiasis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Bone pain Hyperparathyroidism Depressivity Constipation Pancreatitis Growth delay Hypercalcemia Hypertension Primary hyperparathyroidism Peptic ulcer Seizures Dysphagia Chondrocalcinosis Headache Renal insufficiency Neoplasm Short stature Osteomalacia Failure to thrive Osteoporosis

Rare Symptoms - Less than 30% cases


Poor head control Elevated circulating parathyroid hormone level Optic atrophy Mandibular pain Parathyroid carcinoma Ectopia lentis Lipoma Episodic abdominal pain Uterine leiomyoma Fibroma Infantile hypercalcemia Shortened QT interval Generalized hypotonia Thyroid carcinoma Frontal bossing Testicular neoplasm Pancreatic adenocarcinoma Renal cyst Nephroblastoma Multiple lipomas Hypocalcemia Rickets Hypokalemia Emotional lability Alopecia Behavioral abnormality Microcephaly Carcinoma Abnormality of the parathyroid morphology Nausea and vomiting Renal hamartoma Polydipsia Global developmental delay Ossifying fibroma of the jaw Dry skin Paresthesia Hurthle cell thyroid adenoma Anxiety Anorexia Polyuria Vomiting Nausea Congestive heart failure Hoarse voice Arrhythmia Weight loss Abdominal pain Hamartoma Ossifying fibroma Polycystic kidney dysplasia Increased urinary sulfite Reduced xanthine dehydrogenase activity Increased urinary thiosulfate Decreased urinary urate Absent urinary urothione Aldehyde oxidase deficiency Arthralgia Abnormality of the kidney Hypotension Renal cortical adenoma Renal cell carcinoma Neoplasm of the endocrine system Parathyroid adenoma Abnormality of the head Parathyroid hyperplasia Thyroid adenoma Papillary renal cell carcinoma Recurrent pancreatitis Muscle cramps Abnormal pattern of respiration Eczema Ecchymosis Increased body weight Generalized hirsutism Acne Glucose intolerance Truncal obesity Striae distensae Increased circulating cortisol level Oligomenorrhea Meningioma Pituitary adenoma Alkalosis Vertebral compression fractures Poor wound healing Amenorrhea Abdominal obesity Biconcave vertebral bodies Facial erythema Increased circulating ACTH level Abnormality of the menstrual cycle Peripheral edema Mood changes Menometrorrhagia Adrenocorticotropic hormone excess Moon facies Dorsocervical fat pad Macronodular adrenal hyperplasia Abnormal fear/anxiety-related behavior Thin skin Round face Abnormality of the nail Abnormal renal physiology EMG abnormality Abnormality of the fingernails Increased intracranial pressure Reduced bone mineral density Basal ganglia calcification Fatigable weakness Irregular hyperpigmentation Hypoparathyroidism Hypomagnesemia Hyperphosphatemia Reduced consciousness/confusion Tetany Xanthine nephrolithiasis Hirsutism Increased circulating renin level Writer's cramp Hypocalcemic seizures Cortical myoclonus Laryngospasm Hypermagnesiuria Skeletal muscle atrophy Edema Kyphosis Obesity Diabetes mellitus Osteopenia Bruising susceptibility Decreased urinary sulfate Brain atrophy Sulfite oxidase deficiency Difficulty standing Elevated alkaline phosphatase Metaphyseal irregularity Flat occiput Bowing of the legs Femoral bowing Tibial bowing Abnormality of abdomen morphology Delayed epiphyseal ossification Renal tubular dysfunction Hypophosphatemic rickets Thin bony cortex Renal phosphate wasting Fibular bowing Difficulty walking Widely patent fontanelles and sutures Enlargement of the wrists Bulging epiphyses Sparse bone trabeculae Enlargement of the costochondral junction Enlargement of the ankles Calcium nephrolithiasis Increased serum 1,25-dihydroxyvitamin D3 Deformed rib cage Bulging of the costochondral junction Scoliosis Strabismus Sensorineural hearing impairment Recurrent fractures Muscular hypotonia Peripheral neuropathy Multiple small medullary renal cysts Acidosis Postnatal growth retardation Metabolic acidosis Pathologic fracture Renal tubular acidosis Osteopetrosis Periodic paralysis Distal renal tubular acidosis Periodic hypokalemic paresis Myalgia Confusion Hypocalciuria Hypermagnesemia Calcinosis Parathormone-independent increased renal tubular calcium reabsorption Cataract Spasticity Absent speech Hyporeflexia Gastroesophageal reflux Hydronephrosis Abnormality of the cerebral white matter Congenital cataract Inability to walk Delayed myelination Renal hypoplasia Aminoaciduria Flexion contracture Midface retrusion Xanthinuria Neuronal loss in central nervous system Short nose Long philtrum Cerebral atrophy EEG abnormality Deeply set eye Feeding difficulties in infancy Severe global developmental delay Long face Thick vermilion border Gliosis Full cheeks Peripheral demyelination Spastic tetraplegia Hydrocephalus Tetraparesis Progressive microcephaly Spastic tetraparesis Hemiplegia Opisthotonus Axonal loss Lens luxation Myoclonic spasms Hypouricemia Abnormal muscle tone Increased urinary taurine Molybdenum cofactor deficiency Increased urinary hypoxanthine Hypertonia Hypoplasia of the corpus callosum Severe short stature Aplasia/Hypoplasia of the skin Glaucoma Paralysis Narrow chest Retinal detachment Limitation of joint mobility Type II diabetes mellitus Hypertrichosis Subcutaneous nodule Thickened skin Lipodystrophy Mild short stature Decreased muscle mass Lipoatrophy Scleroderma Ventriculomegaly Abnormality of the musculature Impaired pain sensation Abnormality of lipid metabolism Lack of skin elasticity Stiff skin Entrapment neuropathy Intellectual disability Hypertelorism Nystagmus Abnormal facial shape Feeding difficulties Hyperreflexia Macrocephaly Psychotic mentation



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Wide nasal bridge and Highly arched eyebrow, related diseases and genetic alterations Tremor and Ulcerative colitis, related diseases and genetic alterations Pain and Stage 5 chronic kidney disease, related diseases and genetic alterations Spasticity and Talipes equinovarus, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more