Anemia, and Depressivity

Diseases related with Anemia and Depressivity

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


Top matches:

Medium match SOUTHEAST ASIAN OVALOCYTOSIS


Southeast Asian ovalocytosis (SAO) is a rare hereditary red cell membrane defect characterized by the presence of oval-shaped erythrocytes and with most patients being asymptomatic or occasionally manifesting with mild symptoms such as pallor, jaundice, anemia and gallstones.

SOUTHEAST ASIAN OVALOCYTOSIS Is also known as sao|elliptocytosis, stomatocytic hereditary|stomatocytic elliptocytosis|elliptocytosis 4|hereditary ovalocytosis|ovalocytosis, malaysian-melanesian-filipino type|el4|he, stomatocytic|melanesian elliptocytosis|melanesian ovalocytosis

Related symptoms:

  • Depressivity
  • Jaundice
  • Rigidity
  • Hemolytic anemia
  • Cholelithiasis


SOURCES: ORPHANET OMIM MENDELIAN

More info about SOUTHEAST ASIAN OVALOCYTOSIS

Medium match TRIMETHYLAMINURIA; TMAU


Trimethylaminuria results from the abnormal presence of large amounts of volatile and malodorous trimethylamine within the body. This chemical, a tertiary aliphatic amine, is excreted in the urine, sweat (ichthyohidrosis), and breath, which take on the offensive odor of decaying fish (Mitchell, 1996).

TRIMETHYLAMINURIA; TMAU Is also known as fish-odor syndrome

Related symptoms:

  • Anemia
  • Hypertension
  • Splenomegaly
  • Depressivity
  • Hyperhidrosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about TRIMETHYLAMINURIA; TMAU

Medium match RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS; RPEM


Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Anemia


SOURCES: OMIM MENDELIAN

More info about RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS; RPEM

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Other less relevant matches:

Medium match CONGENITAL INTRINSIC FACTOR DEFICIENCY


Congenital intrinsic factor deficiency (IFD) is a rare disorder of vitamin B12 (cobalamin) absorption that is characterized by megaloblastic anemia and neurological abnormalities.

CONGENITAL INTRINSIC FACTOR DEFICIENCY Is also known as intrinsic factor deficiency|ifd|hereditary juvenile megaloblastic anemia due to intrinsic factor deficiency|congenital pernicious anemia|gastric intrinsic factor deficiency|pernicious anemia, congenital, due to defect of intrinsic factor

Related symptoms:

  • Intellectual disability
  • Failure to thrive
  • Anemia
  • Fatigue
  • Abnormality of metabolism/homeostasis


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL INTRINSIC FACTOR DEFICIENCY

Medium match THROMBOCYTOPENIA, CYCLIC


Related symptoms:

  • Anemia
  • Fatigue
  • Thrombocytopenia
  • Depressivity
  • Anxiety


SOURCES: OMIM MENDELIAN

More info about THROMBOCYTOPENIA, CYCLIC

Medium match DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5; DKCB5


Dyskeratosis congenita (DKC) is a bone marrow failure syndrome characterized by severely shortened telomeres and diverse clinical symptoms. The classic presentation of DKC includes nail dystrophy, abnormal skin pigmentation, and oral leukoplakia. Hoyeraal-Hreidarsson syndrome (HHS) is a severe clinical variant of DKC that is characterized by intrauterine growth failure, microcephaly, developmental delay, immunodeficiency, bone marrow failure, and cerebellar hypoplasia. Patients with mutations in the RTEL1 gene tend to present with HHS (summary by Walne et al., 2013).For a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay
  • Anemia


SOURCES: OMIM MENDELIAN

More info about DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5; DKCB5

Medium match MCLEOD SYNDROME; MCLDS


Hematologically, McLeod syndrome is characterized by the absence of red blood cell Kx antigen, weak expression of Kell red blood cell antigens, acanthocytosis, and compensated hemolysis. Most carriers of this McLeod blood group phenotype have acanthocytosis and elevated serum creatine kinase levels and are prone to develop a severe neurologic disorder resembling Huntington disease (OMIM ). Onset of neurologic symptoms ranges between 25 and 60 years (mean onset 30-40 years), and penetrance appears to be high. Additional symptoms include generalized seizures, neuromuscular symptoms leading to weakness and atrophy, and cardiomyopathy mainly manifesting with atrial fibrillation, malignant arrhythmias, and dilated cardiomyopathy (summary by Jung et al., 2007).The cooccurrence of McLeod syndrome and chronic granulomatous disease (CGD ) results from a contiguous gene deletion (Francke et al., 1985).

MCLEOD SYNDROME; MCLDS Is also known as mcleod phenotype|neuroacanthocytosis, mcleod type

Related symptoms:

  • Seizures
  • Muscle weakness
  • Cognitive impairment
  • Anemia
  • Peripheral neuropathy


SOURCES: MESH OMIM MENDELIAN

More info about MCLEOD SYNDROME; MCLDS

Medium match ACERULOPLASMINEMIA


Aceruloplasminemia is an adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by anemia, retinal degeneration, diabetes and various neurological symptoms.

ACERULOPLASMINEMIA Is also known as hereditary ceruloplasmin deficiency

Related symptoms:

  • Ataxia
  • Spasticity
  • Cognitive impairment
  • Anemia
  • Delayed speech and language development


SOURCES: OMIM ORPHANET MENDELIAN

More info about ACERULOPLASMINEMIA

Medium match GLUCAGONOMA


Glucagonoma is a rare, functioning type of pancreatic neuroendocrine tumor (PNET; see this term) that hypersecretes glucagon, leading to a syndrome comprised of necrolytic migratory erythema, diabetes mellitus, anemia, weight loss, mucosal abnormalities, thromboembolism, gastrointestinal and neuropsychiatric symptoms.

GLUCAGONOMA Is also known as glucagonoma syndrome

Related symptoms:

  • Hepatomegaly
  • Diarrhea
  • Depressivity
  • Constipation
  • Diabetes mellitus


SOURCES: ORPHANET MESH MENDELIAN

More info about GLUCAGONOMA

Medium 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

Top 5 symptoms//phenotypes associated to Anemia and Depressivity

Symptoms // Phenotype % cases
Anxiety Uncommon - Between 30% and 50% cases
Behavioral abnormality Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Diarrhea Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Fatigue

Rare Symptoms - Less than 30% cases


Thrombocytopenia Muscle weakness Gastrointestinal hemorrhage Abnormal blistering of the skin Leukopenia Paresthesia Confusion Thromboembolism Skin rash Hepatomegaly Cognitive impairment Decreased serum iron Dysarthria Dystonia Arrhythmia Hepatosplenomegaly Jaundice Acanthocytosis Diabetes mellitus Constipation Weight loss Nausea and vomiting Anorexia Intellectual disability Chorea Neutropenia Rigidity Intermittent jaundice Abnormal bleeding Hyperhidrosis Ataxia Elliptocytosis Hypertension Splenomegaly Abnormality of skin pigmentation Tachycardia Elevated hepatic iron concentration Aceruloplasminemia Cholelithiasis Pruritus Hemolytic anemia Rheumatoid arthritis Ascites Hypercalcemia Steatorrhea Abnormality of the thyroid gland Poor appetite Increased circulating gonadotropin level Growth hormone excess Increased circulating cortisol level Abnormality of abdomen morphology Episodic abdominal pain Prolactin excess Intestinal obstruction Cogwheel rigidity Decreased serum ceruloplasmin Involuntary movements Gait ataxia Hypothyroidism Difficulty walking Poor speech Retinal degeneration Cirrhosis Neurodegeneration Parkinsonism Memory impairment Abnormality of extrapyramidal motor function Type I diabetes mellitus Refractory anemia Torticollis Cerebral palsy Hyperkinesis Slurred speech Polyuria Muscle fibrillation Increased serum ferritin Blepharospasm Intrahepatic cholestasis Scanning speech Neoplasm of the pancreas Chronic fatigue Pituitary adenoma Hepatocellular carcinoma Psychosis Cutaneous photosensitivity Hallucinations Paraparesis Hyperlipidemia Cranial nerve paralysis Hyponatremia Apathy Agitation Insomnia Dysuria Abdominal distention Ileus Urinary retention Diaphragmatic paralysis Abnormal urinary color Delirium Psychotic episodes Hypertensive crisis Respiratory paralysis Paralytic ileus Elevated urinary delta-aminolevulinic acid Red urine Urinary incontinence Coma Hypertonia Abnormal gastrointestinal motility Primary hyperparathyroidism Parathyroid adenoma Stomatitis Adrenocortical adenoma Normochromic anemia Extrahepatic cholestasis Subcutaneous lipoma Glossitis Lack of bowel sounds Necrolytic migratory erythema Pain Nephropathy Vomiting Intellectual disability, mild Renal insufficiency Abdominal pain Arthralgia Myalgia Carcinoma Paralysis Lethargy Stage 5 chronic kidney disease Nausea Dementia Spasticity Congestive heart failure Intracranial hemorrhage Absence of intrinsic factor Megaloblastic erythroid hyperplasia Fever Myopia Falls Bruising susceptibility Hearing impairment Epistaxis Purpura Cerebral hemorrhage Abnormality of the stomach Petechiae Trimethylaminuria Autoimmune thrombocytopenia Gingival bleeding Arterial thrombosis Internal hemorrhage Cyclic neutropenia Short stature Microcephaly Growth delay Malabsorption of Vitamin B12 Increased mean corpuscular volume Cerebellar atrophy Failure to thrive Anisocytosis Macular edema Juvenile rheumatoid arthritis Poikilocytosis Retinal pigment epithelial atrophy Decreased mean corpuscular volume Epiretinal membrane Optic disc pallor Ring scotoma Photoreceptor layer loss on macular OCT Nyctalopia Megaloblastic anemia Abnormality of metabolism/homeostasis Proteinuria Malabsorption Pallor Arthritis Sensory impairment Pancytopenia Edema Abnormality of the immune system Macrocytic anemia Intrauterine growth retardation Fish odor Respiratory distress Obsessive-compulsive behavior Muscular dystrophy Dilated cardiomyopathy Ichthyosis Dyskinesia Generalized-onset seizure Cardiomegaly Atrial fibrillation Aspiration EMG abnormality Abnormality of the musculature Pneumonia Rhabdomyolysis Aspiration pneumonia Motor axonal neuropathy Tics Personality disorder Abetalipoproteinemia Phonic tics Retinal atrophy Delayed speech and language development Tremor Myoclonus Elevated serum creatine phosphokinase Immunodeficiency Colitis Cerebellar hypoplasia Postnatal growth retardation Small for gestational age Nail dystrophy Carious teeth Decreased antibody level in blood Nail dysplasia Lymphopenia Bone marrow hypocellularity Pulmonary fibrosis Oral leukoplakia Areflexia Esophageal stricture Esophageal stenosis Body odor Alzheimer disease Peripheral neuropathy Recurrent pneumonia Abnormality of the cardiovascular system Skeletal muscle atrophy Cardiomyopathy Myopathy Acute episodes of neuropathic symptoms



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Arthritis and Hip dislocation, related diseases and genetic alterations Feeding difficulties and Agenesis of corpus callosum, related diseases and genetic alterations Visual impairment and Intellectual disability, profound, related diseases and genetic alterations Cryptorchidism and Systemic lupus erythematosus, related diseases and genetic alterations Peripheral neuropathy and Anorexia, related diseases and genetic alterations Sensorineural hearing impairment and Acute lymphoblastic leukemia, related diseases and genetic alterations

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