Feeding difficulties, and Hypotension

Diseases related with Feeding difficulties and Hypotension

In the following list you will find some of the most common rare diseases related to Feeding difficulties and Hypotension that can help you solving undiagnosed cases.

Top matches:

CMO type I deficiency is an autosomal recessive disorder caused by a defect in the penultimate biochemical step of aldosterone biosynthesis, the 18-hydroxylation of corticosterone (B) to 18-hydroxycorticosterone (18-OHB). This enzymatic defect results in decreased aldosterone and salt-wasting. In CMO I deficiency, aldosterone is undetectable, whereas its immediate precursor, 18-OHB, is low or normal. These patients have an increased ratio of corticosterone to 18-OHB (Portrat-Doyen et al., 1998).The CYP11B2 gene product also catalyzes the final step in aldosterone biosynthesis: the 18-oxidation of 18-OHB to aldosterone. A defect in that enzymatic step results in CMO type II deficiency (OMIM ), an allelic disorder with an overlapping phenotype but distinct biochemical features. In CMO II deficiency, aldosterone can be low or normal, but at the expense of increased secretion of 18-OHB. These patients have a low ratio of corticosterone to 18-OHB (Portrat-Doyen et al., 1998).

FAMILIAL HYPERRENINEMIC HYPOALDOSTERONISM TYPE 1 Is also known as steroid 18-hydroxylase deficiency|cmo i|aldosterone deficiency due to defect in steroid 18-hydroxylase|18-hydroxylase deficiency|18-oxidase deficiency|aldosterone deficiency i|fhha1|hyperreninemic hypoaldosteronism, familial, 1|aldosterone synthase defici

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Feeding difficulties
  • Fever
  • Vomiting


SOURCES: ORPHANET OMIM MENDELIAN

More info about FAMILIAL HYPERRENINEMIC HYPOALDOSTERONISM TYPE 1

Renal pseudohypoaldosteronism type 1 (renal PHA1) is a mild form of primary mineralocorticoid resistance restricted to the kidney.

RENAL PSEUDOHYPOALDOSTERONISM TYPE 1 Is also known as autosomal dominant pseudohypoaldosteronism type 1|pha i, autosomal dominant

Related symptoms:

  • Short stature
  • Failure to thrive
  • Feeding difficulties
  • Vomiting
  • Diarrhea


SOURCES: OMIM ORPHANET MENDELIAN

More info about RENAL PSEUDOHYPOALDOSTERONISM TYPE 1

Generalized pseudohypoaldosteronism type 1 (generalized PHA1) is a severe form of primary mineralocorticoid resistance with systemic involvement and salt loss in multiple organs.

GENERALIZED PSEUDOHYPOALDOSTERONISM TYPE 1 Is also known as pha i, autosomal recessive|autosomal recessive pseudohypoaldosteronism type 1

Related symptoms:

  • Failure to thrive
  • Vomiting
  • Diarrhea
  • Recurrent respiratory infections
  • Acidosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about GENERALIZED PSEUDOHYPOALDOSTERONISM TYPE 1

Other less relevant matches:

Related symptoms:

  • Global developmental delay
  • Short stature
  • Muscular hypotonia
  • Cognitive impairment
  • Feeding difficulties


SOURCES: ORPHANET MENDELIAN

More info about OBESITY DUE TO SIM1 DEFICIENCY

Alacrima, achalasia, and mental retardation syndrome (AAMR) is an autosomal recessive disorder characterized by onset of these 3 main features at birth or in early infancy. More variable features include hypotonia, gait abnormalities, anisocoria, and visual or hearing deficits. The disorder shows similarity to the triple A syndrome (OMIM ), but patients with AAMR do not have adrenal insufficiency (summary by Koehler et al., 2013).See also {300858} for a phenotypically similar disorder that shows X-linked inheritance.

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME; AAMR

Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency is a very rare form of congenital adrenal hyperplasia (CAH; see this term) encompassing salt-wasting and non-salt wasting forms with a wide variety of symptoms, including glucocorticoid deficiency and male undervirilization manifesting as a micropenis to severe perineoscrotal hypospadias.

CONGENITAL ADRENAL HYPERPLASIA DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE DEFICIENCY Is also known as cah due to 3-beta-hydroxysteroid dehydrogenase deficiency

Related symptoms:

  • Cryptorchidism
  • Feeding difficulties
  • Vomiting
  • Hypospadias
  • Delayed skeletal maturation


SOURCES: ORPHANET MENDELIAN

More info about CONGENITAL ADRENAL HYPERPLASIA DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE DEFICIENCY

Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency is a rare, genetic, chronic, primary adrenal insufficiency disorder, due to partial loss-of-function CYP11A1 mutations, characterized by early-onset adrenal insufficiency without associated abnormal external male genitalia. Patients present with signs of adrenal crisis, including electrolite abnormalities, severe weakness, recurrent vomiting and seizures. Ultrasound reveals absent (or very small) adrenal glands.

Related symptoms:

  • Failure to thrive
  • Cryptorchidism
  • Feeding difficulties
  • Vomiting
  • Delayed skeletal maturation


SOURCES: ORPHANET MENDELIAN

More info about INHERITED ISOLATED ADRENAL INSUFFICIENCY DUE TO PARTIAL CYP11A1 DEFICIENCY

Aromatic L-amino acid decarboxylase deficiency is a very rare, severe, genetic neurometabolic disorder associated with clinical manifestations related to underproduction of serotonin and dopamine, mainly hypotonia, hypokinesia, ptosis oculogyric crises, and signs of autonomic dysfunction.

AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY Is also known as ddc deficiency|aadc deficiency|dopa decarboxylase deficiency

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Pain
  • Ptosis


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY

46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency is a rare, genetic, developmental defect during embryogenesis disorder characterized by severe, early-onset, salt-wasting adrenal insufficiency and ambiguous/female external genitalia (irrespective of chromosomal sex) due to mutations in the CYP11A1 gene. Milder cases may present delayed onset of adrenal gland dysfunction and genitalia phenotype may range from normal male to female in individuals with 46,XY karyotype. Imaging studies reveal hypoplastic/absent adrenal glands and biochemical findings include low serum cortisol, mineralocorticoids, androgens, and sodium, with elevated potassium levels.

46,XY DISORDER OF SEX DEVELOPMENT-ADRENAL INSUFFICIENCY DUE TO CYP11A1 DEFICIENCY Is also known as xy sex reversal-adrenal failure|p450scc deficiency

Related symptoms:

  • Failure to thrive
  • Cryptorchidism
  • Feeding difficulties
  • Talipes equinovarus
  • Vomiting


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about 46,XY DISORDER OF SEX DEVELOPMENT-ADRENAL INSUFFICIENCY DUE TO CYP11A1 DEFICIENCY

The mitochondrial trifunctional protein, composed of 4 alpha and 4 beta subunits, catalyzes 3 steps in mitochondrial beta-oxidation of fatty acids: long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD), long-chain enoyl-CoA hydratase, and long-chain thiolase activities. Trifunctional protein deficiency is characterized by decreased activity of all 3 enzymes. Clinically, classic trifunctional protein deficiency can be classified into 3 main clinical phenotypes: neonatal onset of a severe, lethal condition resulting in sudden unexplained infant death (SIDS ), infantile onset of a hepatic Reye-like syndrome, and late-adolescent onset of primarily a skeletal myopathy (Spiekerkoetter et al., 2003).Some patients with MTP deficiency show a protracted progressive course associated with myopathy, recurrent rhabdomyolysis, and sensorimotor axonal neuropathy. These patients tend to survive into adolescence and adulthood (den Boer et al., 2003).See also isolated LCHAD deficiency (OMIM ), which is caused by mutation in the HADHA gene.

MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY; MTPD Is also known as trifunctional protein deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY; MTPD

Top 5 symptoms//phenotypes associated to Feeding difficulties and Hypotension

Symptoms // Phenotype % cases
Vomiting Common - Between 50% and 80% cases
Increased circulating renin level Common - Between 50% and 80% cases
Hyperkalemia Common - Between 50% and 80% cases
Failure to thrive Common - Between 50% and 80% cases
Renal salt wasting Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Feeding difficulties and Hypotension. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Hyponatremia

Uncommon Symptoms - Between 30% and 50% cases

Dehydration

Common Symptoms - More than 50% cases

Acidosis

Uncommon Symptoms - Between 30% and 50% cases

Global developmental delay Decreased circulating aldosterone level Neonatal hypoglycemia Generalized hypotonia Primary adrenal insufficiency Generalized hyperpigmentation Decreased fertility Male pseudohermaphroditism Female external genitalia in individual with 46,XY karyotype Clitoral hypertrophy Reduced bone mineral density Gynecomastia Decreased testicular size Elevated circulating follicle stimulating hormone level Delayed puberty Abnormal sex determination Osteoporosis Delayed skeletal maturation Decreased circulating cortisol level Abnormal vagina morphology Absence of secondary sex characteristics Hyperaldosteronism Hypernatriuria Feeding difficulties in infancy Adrenocorticotropic hormone excess Hypovolemia Increased circulating ACTH level Diarrhea Lethargy Metabolic acidosis Ambiguous genitalia, male Urogenital sinus anomaly Elevated circulating luteinizing hormone level Muscular hypotonia Cryptorchidism

Rare Symptoms - Less than 30% cases

Aplasia of the uterus Cardiac arrest Agenesis of corpus callosum Premature birth Abnormality of cholesterol metabolism Decreased circulating androgen level Generalized bronze hyperpigmentation Adrenal hypoplasia Abnormality of prenatal development or birth Abnormality of the Leydig cells Hypospadias Sex reversal Low maternal serum estriol Intellectual disability Cyanosis Short stature Pseudohypoaldosteronism Hyperactive renin-angiotensin system Recurrent respiratory infections Hypoglycemia Abnormal autonomic nervous system physiology Midshaft hypospadias Abnormal glucose tolerance Sensory impairment Pain Respiratory failure Abnormal urine potassium concentration Adrenal insufficiency Hyperhidrosis Orthostatic hypotension Induced vaginal delivery Athetosis Emotional lability Hyperpigmentation of the skin Intermittent hypothermia Bilateral talipes equinovarus Hyperkinesis Adrenal hyperplasia Seizures Muscle weakness Drooling Bilateral cryptorchidism Agitation Vitreomacular adhesion Hypokinesia Limb dystonia Insomnia Talipes Hypothermia Hernia Miosis Nasal obstruction Temperature instability Talipes equinovarus Decreased CSF homovanillic acid Vertigo Limb hypertonia Hyporeflexia Peripheral neuropathy Rhabdomyolysis Generalized muscle weakness Pigmentary retinopathy Hydrops fetalis Decreased liver function Tachypnea Hyperammonemia Decreased nerve conduction velocity Tricuspid regurgitation Myoglobinuria Coma Hypoparathyroidism Hypoketotic hypoglycemia Skeletal myopathy Progressive peripheral neuropathy Abnormality of the amniotic fluid Recurrent myoglobinuria Prenatal maternal abnormality Exercise-induced rhabdomyolysis Acute hepatic steatosis Muscle cramps Hepatic steatosis Ventriculomegaly Elevated hepatic transaminase Respiratory insufficiency Respiratory distress Cardiomyopathy Edema Myopathy Congestive heart failure Renal insufficiency Dilatation Difficulty walking Myalgia Distal sensory impairment Respiratory tract infection Abnormality of the liver Distal muscle weakness Retinopathy Small for gestational age Dilated cardiomyopathy Peripheral axonal neuropathy Lactic acidosis Hepatic failure Muscle stiffness Growth delay Leukodystrophy Nasal speech Spasticity Delayed speech and language development Gait disturbance Dysphagia Hyperkeratosis Hypohidrosis Achalasia Nystagmus Alacrima Anisocoria Hirsutism Ambiguous genitalia Insulin resistance Accelerated skeletal maturation Polycystic ovaries Strabismus Hearing impairment Bifid scrotum Cognitive impairment Fever Failure to thrive in infancy Episodic fever Increased body weight Renal tubular dysfunction Recurrent lower respiratory tract infections Obesity Increased resting energy expenditure Autistic behavior Attention deficit hyperactivity disorder Memory impairment Hyperinsulinemia Polyphagia Vitamin B1 deficiency Postural hypotension with compensatory tachycardia Acne Glucose intolerance Abnormality of the face Myoclonus Hypoplasia of the corpus callosum Hypertonia Dystonia Cerebral atrophy Babinski sign Constipation Gastroesophageal reflux Hyperreflexia Muscular hypotonia of the trunk Irritability Abnormality of eye movement Sleep disturbance Chorea Syncope Choreoathetosis Fatigue Motor delay Perineal hypospadias Decreased fertility in males Abnormality of the menstrual cycle Enlarged polycystic ovaries Congenital adrenal hyperplasia Decreased fertility in females Ambiguous genitalia, female Adrenogenital syndrome Premature adrenarche Ptosis Enlarged ovaries Androgen insufficiency Abnormal oral glucose tolerance Hyperpigmented genitalia Abnormality of the labia majora Ectopic adrenal gland Adrenal calcification Respiratory failure requiring assisted ventilation


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Ventricular septal defect and Nausea and vomiting, related diseases and genetic alterations