Abnormal facial shape, and Nephrolithiasis

Diseases related with Abnormal facial shape and Nephrolithiasis

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


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Low match AUTOSOMAL RECESSIVE INFANTILE HYPERCALCEMIA


Autosomal recessive infantile hypercalcemia is a rare, genetic, phosphocalcic metabolism disorder characterized by early-onset hypercalcemia, hypophosphatemia, hypercalciuria, decreased intact parathyroid hormone serum levels and medullary nephrocalcinosis, typically manifesting with failure to thrive, hypotonia, vomiting, constipation and/or polyuria.

AUTOSOMAL RECESSIVE INFANTILE HYPERCALCEMIA Is also known as familial infantile hypercalcemia with suppressed intact parathyroid hormone|hypercalcemia, idiopathic, of infancy

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Failure to thrive
  • Muscular hypotonia
  • Vomiting


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE INFANTILE HYPERCALCEMIA

Low match BARTTER SYNDROME, TYPE 4A, NEONATAL, WITH SENSORINEURAL DEAFNESS; BARTS4A


Bartter syndrome refers to a group of disorders that are unified by autosomal recessive transmission of impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and hypercalciuria. Clinical disease results from defective renal reabsorption of sodium chloride in the thick ascending limb (TAL) of the Henle loop, where 30% of filtered salt is normally reabsorbed (Simon et al., 1997).Patients with antenatal (or neonatal) forms of Bartter syndrome typically present with premature birth associated with polyhydramnios and low birth weight and may develop life-threatening dehydration in the neonatal period. Patients with classic Bartter syndrome (see BARTS3, {607364}) present later in life and may be sporadically asymptomatic or mildly symptomatic (summary by Simon et al., 1996 and Fremont and Chan, 2012).For a discussion of genetic heterogeneity of Bartter syndrome, see {607364}.

BARTTER SYNDROME, TYPE 4A, NEONATAL, WITH SENSORINEURAL DEAFNESS; BARTS4A Is also known as bartter syndrome, neonatal, with sensorineural deafness|bsnd

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Hearing impairment
  • Failure to thrive
  • Sensorineural hearing impairment


SOURCES: OMIM MENDELIAN

More info about BARTTER SYNDROME, TYPE 4A, NEONATAL, WITH SENSORINEURAL DEAFNESS; BARTS4A

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

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


Molybdenum cofactor deficiency is a rare autosomal recessive metabolic disorder characterized by neonatal onset of intractable seizures, opisthotonus, and facial dysmorphism associated with hypouricemia and elevated urinary sulfite levels. Affected individuals show severe neurologic damage and often die in early childhood (summary by Reiss et al., 1999).For a general phenotypic description and a discussion of genetic heterogeneity of MOCOD, see MOCODA (OMIM ), which is clinically indistinguishable from MOCODB.

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

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: OMIM ORPHANET MESH MENDELIAN

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

Low match GLYCOGEN STORAGE DISEASE DUE TO GLUCOSE-6-PHOSPHATASE DEFICIENCY TYPE IB


Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type b, or glycogen storage disease (GSD) type 1b, is a type of glycogenosis due to G6P deficiency (see this term).

GLYCOGEN STORAGE DISEASE DUE TO GLUCOSE-6-PHOSPHATASE DEFICIENCY TYPE IB Is also known as glycogenosis due to glucose-6-phosphatase transport defect type ib|gsd type ib|glycogenosis due to glucose-6-phosphatase deficiency type 1b|glycogen storage disease type ib|gsd due to g6p deficiency type ib|glycogen storage disease due to g6p deficiency t

Related symptoms:

  • Seizures
  • Short stature
  • Growth delay
  • Hypertension
  • Hepatomegaly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO GLUCOSE-6-PHOSPHATASE DEFICIENCY TYPE IB

Low match OSTEOGENESIS IMPERFECTA, TYPE X; OI10


Osteogenesis imperfecta (OI) comprises a group of connective tissue disorders characterized by bone fragility and low bone mass. The disorder is clinically and genetically heterogeneous. OI type X is an autosomal recessive form characterized by multiple bone deformities and fractures, generalized osteopenia, dentinogenesis imperfecta, and blue sclera (Christiansen et al., 2010).

OSTEOGENESIS IMPERFECTA, TYPE X; OI10 Is also known as oi, type x

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about OSTEOGENESIS IMPERFECTA, TYPE X; OI10

Low match LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2; CGL2


Congenital generalized lipodystrophy (CGL), also known as Berardinelli-Seip syndrome, is an autosomal recessive disorder characterized by marked paucity of adipose tissue, extreme insulin resistance, hypertriglyceridemia, hepatic steatosis and early onset of diabetes (Garg, 2004).For a general description and a discussion of genetic heterogeneity of congenital generalized lipodystrophy, see CGL1 (OMIM ).

LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2; CGL2 Is also known as berardinelli-seip congenital lipodystrophy, type 2|brunzell syndrome, bscl2-related|lipoatrophic diabetes, congenital|seip syndrome|lipodystrophy, total, and acromegaloid gigantism|lipodystrophy, berardinelli-seip congenital, type 2|berardinelli syndrome

Related symptoms:

  • Intellectual disability
  • Cognitive impairment
  • Hypertension
  • Hepatomegaly
  • Cardiomyopathy


SOURCES: OMIM MENDELIAN

More info about LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2; CGL2

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

Low match PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY


Phosphoribosylpyrophosphate synthetase I superactivity is an X-linked inborn error of metabolism in which increased enzyme activity is associated with hyperuricemia and gout. Some affected individuals have neurodevelopmental abnormalities, particularly sensorineural deafness (Becker et al., 1988; Roessler et al., 1993).Although different kinetic defects affecting the PRPS1 enzyme have been identified in this disorder, the common pathway involves increased synthesis of phosphoribosylpyrophosphate (PRPP), which leads to increased uric acid and purine production (Becker, 2001).

PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY Is also known as prps1 superactivity

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY

Low match CUSHING DISEASE


Cushing disease (CD) is the most common cause of endogenous Cushing syndrome (CS; see this term) and is due to pituitary chronic over-secretion of ACTH by a pituitary corticotroph adenoma.

CUSHING DISEASE Is also known as corticotroph pituitary adenoma|pituitary-dependent cushing syndrome|pituitary corticotroph micro-adenoma

Related symptoms:

  • Failure to thrive
  • Cataract
  • Visual impairment
  • Hypertension
  • Fatigue


SOURCES: ORPHANET MENDELIAN

More info about CUSHING DISEASE

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Nephrolithiasis

Symptoms // Phenotype % cases
Generalized hypotonia Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Hypertension Uncommon - Between 30% and 50% cases
Failure to thrive Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Abnormal facial shape and Nephrolithiasis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Triangular face Fatigue Hearing impairment Increased urinary hypoxanthine Hypokalemia Diabetes mellitus Osteoporosis Seizures Global developmental delay Macrocephaly Cardiomyopathy Muscular hypotonia Prominent forehead

Rare Symptoms - Less than 30% cases


Axonal loss Opisthotonus Hirsutism Spastic tetraparesis Tetraparesis Spastic tetraplegia Long face Peripheral demyelination Full cheeks Gliosis Thick vermilion border Myoclonic spasms Cerebral atrophy Long philtrum Short nose Hypertonia Hypoplasia of the corpus callosum Ventriculomegaly Frontal bossing Lens luxation Xanthine nephrolithiasis Hypouricemia Hyperuricemia Lipodystrophy Vertebral compression fractures High pitched voice Osteopenia Depressivity Bruising susceptibility Round face Gout Thin skin Generalized hirsutism Acne Increased urinary taurine Pancreatitis Truncal obesity Elevated hepatic transaminase Pituitary adenoma Recurrent infections Hepatomegaly Short stature Xanthinuria Molybdenum cofactor deficiency Feeding difficulties Ectopia lentis Nystagmus Dehydration Lethargy Nephrocalcinosis Hypercalciuria Polyuria Alkalosis Motor delay Renal insufficiency Edema Sensorineural hearing impairment Microcephaly Hypertelorism Decreased glomerular filtration rate Reduced intrathoracic adipose tissue Cystic angiomatosis of bone Kyphosis Generalized muscular appearance from birth Neoplasm Muscle weakness Skeletal muscle atrophy Telangiectasia of the skin Obesity Generalized hyperpigmentation Alopecia Labial hypertrophy Amenorrhea Menorrhagia Increased body weight Premature ovarian insufficiency Recurrent skin infections Emotional lability Venous thrombosis Aseptic necrosis Decreased serum leptin Insulin-resistant diabetes mellitus at puberty Bipolar affective disorder Epidermal acanthosis Hypertriglyceridemia Hypertrichosis Abnormality of the genital system Tall stature Onychomycosis Insulin resistance Accelerated skeletal maturation Acanthosis nigricans Polycystic ovaries Adrenal hyperplasia Hyperinsulinemia Clitoral hypertrophy Prominent umbilicus Large hands Skeletal muscle hypertrophy Polyphagia Decreased fertility Lipoatrophy Long foot Bone cyst Thick hair Acute pancreatitis Generalized lipodystrophy Decreased fertility in females Congenital generalized lipodystrophy Glucose intolerance Oligomenorrhea Hyperparathyroidism Polyneuropathy Excessive purine production Abnormal fear/anxiety-related behavior Psychotic mentation Hyperuricosuria Ataxia Abnormal aortic morphology Strabismus High-frequency hearing impairment Epicanthus Arnold-Chiari type I malformation Hypotelorism Convex nasal ridge Peripheral neuropathy Uric acid nephrolithiasis Arrhythmia Areflexia Pneumonia Peripheral axonal neuropathy Dysmetria Abnormality of eye movement Hypermetropia Hyperactivity Neurological speech impairment Wide mouth Abnormality of the nervous system Arthritis Abnormality of skeletal muscles Cataract Striae distensae Increased circulating ACTH level Increased circulating cortisol level Meningioma Ecchymosis Psychosis Recurrent fractures Sleep disturbance Infertility Anxiety Poor wound healing Abdominal obesity Biconcave vertebral bodies Facial erythema Abnormality of the menstrual cycle Visual impairment Peripheral edema Mood changes Menometrorrhagia Adrenocorticotropic hormone excess Moon facies Abdominal pain Dorsocervical fat pad Visual loss Headache Immunodeficiency Myopathy Macronodular adrenal hyperplasia Hepatic steatosis Platyspondyly Cirrhosis Feeding difficulties in infancy Increased urinary potassium Hypochloremia Fetal polyuria Hyperchloriduria Global glomerulosclerosis Hypochloremic metabolic alkalosis Hypokalemic hypochloremic metabolic alkalosis Reduced renal corticomedullary differentiation Hyperreflexia Hydrocephalus EEG abnormality Deeply set eye Severe global developmental delay Hypernatriuria Brain atrophy Neuronal loss in central nervous system Progressive microcephaly Poor head control Hemiplegia Abnormal muscle tone Sulfite oxidase deficiency Decreased urinary sulfate Increased urinary sulfite Reduced xanthine dehydrogenase activity Increased urinary thiosulfate Decreased urinary urate Absent urinary urothione Mesangial hypercellularity Hypokalemic metabolic alkalosis Encephalopathy Protruding ear Vomiting Weight loss Abnormality of the eye Pulmonic stenosis Thick lower lip vermilion Aortic valve stenosis Hypercalcemia Infantile hypercalcemia Medullary nephrocalcinosis Elfin facies Hyporeflexia Polyhydramnios Small for gestational age Hypokalemic alkalosis Stage 5 chronic kidney disease Postural instability Premature birth Hydrops fetalis Glomerulosclerosis Polydipsia Hyponatremia Congenital sensorineural hearing impairment Hyperaldosteronism Renal salt wasting Abnormally large globe Metabolic alkalosis Tubulointerstitial fibrosis Aldehyde oxidase deficiency Irritability Hypertrophic cardiomyopathy Femoral bowing Micromelia Limb undergrowth Narrow forehead Blue sclerae Abnormal lung morphology Wide anterior fontanel Wormian bones Coxa valga Relative macrocephaly Chronic kidney disease Pyloric stenosis Increased susceptibility to fractures Thin ribs Narrow chest Shallow orbits Generalized joint laxity Broad ribs Chronic lung disease Dentinogenesis imperfecta Ureteropelvic junction obstruction Cognitive impairment Intellectual disability, mild Splenomegaly Hernia Mandibular prognathia Macrotia Umbilical hernia Genu valgum Joint laxity Cardiorespiratory arrest Protuberant abdomen Diffuse cerebral atrophy Acidosis Hypoglycemia Proteinuria Delayed puberty Lactic acidosis Neutropenia Abnormal bleeding Recurrent bacterial infections Hyperlipidemia Inflammation of the large intestine Focal segmental glomerulosclerosis Hepatocellular carcinoma Hydronephrosis Enlarged kidney Xanthomatosis Xanthelasma Oral ulcer Lipemia retinalis Doll-like facies Scoliosis Micrognathia Respiratory distress Malar flattening Midface retrusion Inguinal hernia High forehead Metrorrhagia



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