Anemia, and Sleep disturbance

Diseases related with Anemia and Sleep disturbance

In the following list you will find some of the most common rare diseases related to Anemia and Sleep disturbance that can help you solving undiagnosed cases.


Top matches:

Low match BLOOD GROUP, SS; SS


Ss blood group antigens reside on the red-cell glycoprotein GYPB. The S and s antigens result from a polymorphism at amino acid 29 of GYPB, where S has met29 and s has thr29. The U antigen refers to a short extracellular sequence in GYPB located near the membrane. GYPB, glycophorin A (GYPA ), and glycophorin E (GYPE ) are closely linked on chromosome 4q31. Antigens of the MN blood group (OMIM ) reside on GYPA. The M and N antigens differ at amino acids 1 and 5 of GYPA, where M is ser-ser-thr-thr-gly, and N is leu-ser-thr-thr-glu. The N terminus of GYPB is essentially identical to that of GYPA except that it always expresses the N antigen, denoted 'N' or N-prime. Recombination and gene conversion between GYPA, GYPB, and GYPE lead to hybrid glycophorin molecules and generation of low-incidence antigens. Thus, the MN and Ss blood groups are together referred to as the MNSs blood group system (see {111300}). Recombination results in 3 glycophorin-null phenotypes: En(a-) cells lack GYPA due to recombination between GYPA and GYPB; GYPB-negative (S-s-U-) cells lack GYPB due to recombination in GYPB; and M(k) cells (M-N-S-s-U-) lack both GYPA and GYPB due to recombination between GYPA and GYPE. Individuals with glycophorin-null phenotypes have decreased sialic acid content and increased resistance to malarial infection (see {611162}). GYPA and GYPB are not essential for red-cell development or survival, and GYPA- and GYPB-null phenotypes are not associated with anemia or altered red-cell function (review by Cooling, 2015).

BLOOD GROUP, SS; SS Is also known as ss blood group

Related symptoms:

  • Neoplasm
  • Anemia


SOURCES: OMIM MENDELIAN

More info about BLOOD GROUP, SS; SS

Low match L-FERRITIN DEFICIENCY


Related symptoms:

  • Seizures
  • Cataract
  • Anemia
  • Alopecia
  • Generalized-onset seizure


SOURCES: ORPHANET OMIM MENDELIAN

More info about L-FERRITIN DEFICIENCY

Low match NEPHROTIC SYNDROME, TYPE 2; NPHS2


Steroid-resistant nephrotic syndrome type 2 is an autosomal recessive disorder characterized clinically by childhood onset of proteinuria, hypoalbuminemia, hyperlipidemia, and edema. Kidney biopsies show nonspecific histologic changes such as minimal change, focal segmental glomerulosclerosis (FSGS), and diffuse mesangial proliferation. The disorder is resistant to steroid treatment and progresses to end-stage renal failure in the first or second decades (summary by Fuchshuber et al., 1996). Some patients show later onset of the disorder (Tsukaguchi et al., 2002).For a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome and FSGS, see NPHS1 (OMIM ).

NEPHROTIC SYNDROME, TYPE 2; NPHS2 Is also known as nephrotic syndrome, steroid-resistant, autosomal recessive|srn1

Related symptoms:

  • Anemia
  • Edema
  • Renal insufficiency
  • Obesity
  • Proteinuria


SOURCES: OMIM ORPHANET MENDELIAN

More info about NEPHROTIC SYNDROME, TYPE 2; NPHS2

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Other less relevant matches:

Low match DIAMOND-BLACKFAN ANEMIA 17; DBA17


Related symptoms:

  • Anemia
  • Hyperpigmentation of the skin


SOURCES: OMIM MENDELIAN

More info about DIAMOND-BLACKFAN ANEMIA 17; DBA17

Low match PITUITARY APOPLEXY


The sudden loss of blood supply to the PITUITARY GLAND, leading to tissue NECROSIS and loss of function (PANHYPOPITUITARISM). The most common cause is hemorrhage or INFARCTION of a PITUITARY ADENOMA. It can also result from acute hemorrhage into SELLA TURCICA due to HEAD TRAUMA; INTRACRANIAL HYPERTENSION; or other acute effects of central nervous system hemorrhage. Clinical signs include severe HEADACHE; HYPOTENSION; bilateral visual disturbances; UNCONSCIOUSNESS; and COMA.

Related symptoms:

  • Ptosis
  • Hypertension
  • Fever
  • Fatigue
  • Headache


SOURCES: MESH ORPHANET MENDELIAN

More info about PITUITARY APOPLEXY

Low match 3-HYDROXY-3-METHYLGLUTARIC ACIDURIA


3-hydroxy-3-methylglutaric aciduria (3HMG) is an organic aciduria, due to deficiency of 3-hydroxy-3-methylglutaryl-CoA-lyase (a key enzyme in ketogenesis and leucine metabolism) usually presenting in infancy with episodes of metabolic decompensation triggered by periods of fasting or infections, which when left untreated are life-threatening and may lead to neurological sequelae.

3-HYDROXY-3-METHYLGLUTARIC ACIDURIA Is also known as hydroxymethylglutaric aciduria|hmg-coa lyase deficiency|3-hydroxy-3-methylglutaryl-coa lyase deficiency|hmgcl deficiency|hl deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Spasticity
  • Anemia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about 3-HYDROXY-3-METHYLGLUTARIC ACIDURIA

Low match NIEMANN-PICK DISEASE TYPE A


Niemann-Pick disease type A is a very severe subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in infancy or early childhood with failure to thrive, hepatosplenomegaly, and rapidly progressive neurodegenerative disorders.

NIEMANN-PICK DISEASE TYPE A Is also known as sphingomyelinase deficiency|sphingomyelin lipidosis

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Failure to thrive


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about NIEMANN-PICK DISEASE TYPE A

Low match ACUTE INTERMITTENT PORPHYRIA


Acute intermittent porphyria is the most frequent and the most severe form of the acute hepatic porphyrias (see this term). It is characterized by the occurrence of neuro-visceral attacks without cutaneous manifestations.

ACUTE INTERMITTENT PORPHYRIA Is also known as ups deficiency|porphyria, swedish type|pbgd deficiency|porphobilinogen deaminase deficiency|uroporphyrinogen synthase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Muscle weakness
  • Pain


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ACUTE INTERMITTENT PORPHYRIA

Low match HEREDITARY COPROPORPHYRIA


Hereditary coproporphyria is a form of acute hepatic porphyria (see this term) characterized by the occurrence of neuro-visceral attacks and, more rarely, by the presence of cutaneous lesions.

HEREDITARY COPROPORPHYRIA Is also known as cpox deficiency|cpx deficiency|coproporphyrinogen oxidase deficiency|cpo deficiency

Related symptoms:

  • Seizures
  • Muscle weakness
  • Pain
  • Anemia
  • Hypertension


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about HEREDITARY COPROPORPHYRIA

Top 5 symptoms//phenotypes associated to Anemia and Sleep disturbance

Symptoms // Phenotype % cases
Vomiting Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Hepatomegaly Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Hyponatremia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Anemia and Sleep disturbance. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Hypertension Excessive daytime somnolence Intellectual disability Irritability Muscle weakness Diarrhea Constipation Nausea and vomiting Hepatosplenomegaly Coma Generalized hypotonia

Rare Symptoms - Less than 30% cases


Insomnia Spasticity Acidosis Delirium Lethargy Metabolic acidosis Respiratory paralysis Red urine Ileus Areflexia Apathy Arthralgia Pain Prolonged neonatal jaundice Behavioral abnormality Depressivity Arrhythmia Abdominal pain Jaundice Myalgia Hallucinations Splenomegaly Anxiety Failure to thrive Paralysis Paresthesia Nausea Psychosis Cutaneous photosensitivity Tachycardia Acute episodes of neuropathic symptoms Stage 5 chronic kidney disease Renal insufficiency Confusion Hyperlipidemia Hypoglycemia Ptosis Fever Proteinuria Fatigue Cranial nerve paralysis Hypotension Aminoaciduria Decreased liver function Auditory hallucinations Bilateral sensorineural hearing impairment Generalized muscle weakness Nephropathy Abdominal distention Urinary incontinence Lactic acidosis Abnormal pyramidal sign Pigmentary retinopathy Respiratory insufficiency due to muscle weakness Spastic tetraparesis Progressive peripheral neuropathy Foam cells with lamellar inclusion bodies Fatigable weakness of swallowing muscles Diffuse hepatic steatosis Progressive leukoencephalopathy Intellectual disability, mild Renal Fanconi syndrome Hyperhidrosis Developmental regression Hyperphosphaturia Weight loss Increased CSF lactate Renal tubular dysfunction Glycosuria Carcinoma Exertional dyspnea Anorexia Gait disturbance Paraparesis Paralytic ileus Fragile skin Orthostatic hypotension Hypermelanotic macule Thin skin Hypertrichosis Paranoia Abnormal blistering of the skin Hemolytic anemia Pruritus Elevated hepatic transaminase Abnormality of metabolism/homeostasis Peripheral neuropathy Sea-blue histiocytosis Elevated urinary delta-aminolevulinic acid Congenital hemolytic anemia Agitation Diaphragmatic paralysis Hypertrophic cardiomyopathy Visual hallucinations Hepatocellular carcinoma Dysuria Urinary retention Optic atrophy Motor delay Hypertensive crisis Abnormal urinary color Delayed speech and language development Ataxia Abdominal colic Compensated hemolytic anemia Psychotic episodes Diffuse reticular or finely nodular infiltrations Neoplasm Bone-marrow foam cells Blurred vision Headache Reduced visual acuity Photophobia Pallor Growth hormone deficiency Diplopia Hypergonadotropic hypogonadism Impotence Hypopituitarism Mesangial hypercellularity Growth hormone excess Increased circulating cortisol level Oligomenorrhea Prolactin excess Pituitary adenoma Pituitary hypothyroidism Adrenocorticotropic hormone deficiency Central diabetes insipidus Hyperpigmentation of the skin Mild proteinuria Galactorrhea Abnormality of the kidney Cataract Alopecia Generalized-onset seizure Iron deficiency anemia Increased serum ferritin Restless legs Edema Obesity Apnea Steroid-resistant nephrotic syndrome Scarring Nephrotic syndrome Sleep apnea Chronic kidney disease Hypoalbuminemia Glomerulosclerosis Focal segmental glomerulosclerosis Obstructive sleep apnea Normochromic anemia Abnormality of the cerebrospinal fluid Cherry red spot of the macula Osteoporosis Nonketotic hypoglycemia 3-Methylglutaric aciduria Increased level of hippuric acid in urine Increased level of 3-hydroxy-3-methylglutaric acid in urine Short stature Muscular hypotonia Hyporeflexia Recurrent respiratory infections Rigidity Dicarboxylic aciduria Feeding difficulties in infancy Respiratory tract infection Lymphadenopathy Athetosis Microcytic anemia Protuberant abdomen Xanthomatosis Glutaric aciduria Acute pancreatitis Mydriasis EEG abnormality Prolactin deficiency Trigeminal neuralgia Bitemporal hemianopia Abnormal kinetic perimetry test Thunderclap headache Abnormal caudate nucleus morphology Abnormal static automated perimetry test Myoclonus Abnormality of the cerebral white matter Decreased plasma carnitine Aciduria Dehydration Pancreatitis Hyperammonemia Hyperuricemia Ketonuria Recurrent hypoglycemia Organic aciduria Skeletal muscle steatosis



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Intrauterine growth retardation and Umbilical hernia, related diseases and genetic alterations Hepatomegaly and Hypercholesterolemia, related diseases and genetic alterations Delayed speech and language development and Esotropia, related diseases and genetic alterations Cognitive impairment and Blue sclerae, related diseases and genetic alterations Failure to thrive and Tachycardia, related diseases and genetic alterations

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