Anemia, and Delayed puberty

Diseases related with Anemia and Delayed puberty

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


Top matches:

Medium match SICKLE CELL-BETA-THALASSEMIA DISEASE SYNDROME


SICKLE CELL-BETA-THALASSEMIA DISEASE SYNDROME Is also known as hbs-beta-thalassemia syndrome

Related symptoms:

  • Pain
  • Anemia
  • Hypertension
  • Pneumonia
  • Jaundice


SOURCES: ORPHANET MENDELIAN

More info about SICKLE CELL-BETA-THALASSEMIA DISEASE SYNDROME

Low match ALPHA-THALASSEMIA


Related symptoms:

  • Anemia
  • Hepatomegaly
  • Fatigue
  • Splenomegaly
  • Jaundice


SOURCES: OMIM MENDELIAN

More info about ALPHA-THALASSEMIA

Low match HEREDITARY SPHEROCYTOSIS


Hereditary spherocytosis is a congenital hemolytic anemia with a wide clinical spectrum (from symptom-free carriers to severe hemolysis) characterized by anemia, variable jaundice, splenomegaly and cholelithiasis.

HEREDITARY SPHEROCYTOSIS Is also known as sph|hs|minkowski-chauffard disease|hs1|spherocytosis, hereditary, 1

Related symptoms:

  • Short stature
  • Anemia
  • Fatigue
  • Abnormality of the skeletal system
  • Cardiomyopathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about HEREDITARY SPHEROCYTOSIS

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Other less relevant matches:

Low match PITUITARY STALK INTERRUPTION SYNDROME


Pituitary stalk interruption syndrome (PSIS) is a congenital abnormality of the pituitary that is responsible for pituitary deficiency and is usually characterized by the triad of a very thin or interrupted pituitary stalk, an ectopic (or absent) posterior pituitary (EPP) and hypoplasia or aplasia of the anterior pituitary visible on MRI. In some patients the abnormality may be limited to EPP (also called ectopic neurohypophysis) or to an interrupted pituitary stalk.

PITUITARY STALK INTERRUPTION SYNDROME Is also known as psis|ectopic neurohypophysis

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Failure to thrive


SOURCES: ORPHANET MENDELIAN

More info about PITUITARY STALK INTERRUPTION SYNDROME

Low match GLYCOGEN STORAGE DISEASE DUE TO ALDOLASE A DEFICIENCY


Glycogen storage disease due to aldolase A deficiency is an extremely rare glycogen storage disease (see this term) characterized by hemolytic anemia with or without myopathy or intellectual deficit. Myopathy can be severe enough to result in fatal rhabdomyolysis in some patients. A family with episodic rhabdomyolysis (triggerd by fever) without hemolytic anemia has recently been reported.

GLYCOGEN STORAGE DISEASE DUE TO ALDOLASE A DEFICIENCY Is also known as glycogenosis type xii|red cell aldolase deficiency|gsd type xii|gsd type 12|gsd xii|aldolase deficiency, red cell|aldoa deficiency|gsd due to aldolase a deficiency|glycogen storage disease type 12|glycogenosis type 12|glycogen storage disease type xii|gly

Related symptoms:

  • Intellectual disability
  • Short stature
  • Growth delay
  • Muscle weakness
  • Ptosis


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO ALDOLASE A DEFICIENCY

Low match RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA, GENERALIZED INTERMEDIATE


Recessive dystrophic epidermolysis bullosa (RDEB)-generalized other, also known as RDEB non-Hallopeau-Siemens type, is a subtype of DEB (see this term) characterized by generalized cutaneous and mucosal blistering that is not associated with severe deformities.

RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA, GENERALIZED INTERMEDIATE Is also known as generalized mitis rdeb|autosomal recessive dystrophic epidermolysis bullosa generalisata mitis|autosomal recessive dystrophic epidermolysis bullosa, generalized other|rdeb, generalized intermediate|rdeb-generalized other|rdeb, non-hallopeau-siemens type|r

Related symptoms:

  • Failure to thrive
  • Anemia
  • Feeding difficulties
  • Dysphagia
  • Visual loss


SOURCES: ORPHANET MENDELIAN

More info about RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA, GENERALIZED INTERMEDIATE

Low match STAT3-RELATED EARLY-ONSET MULTISYSTEM AUTOIMMUNE DISEASE


Infantile-onset multisystem autoimmune disease-1 is characterized by early childhood onset of a spectrum of autoimmune disorders affecting multiple organs. Common manifestations include insulin-dependent diabetes mellitus and autoimmune enteropathy, or celiac disease, and autoimmune hematologic disorders. Other features include short stature and nonspecific dermatitis. More variable features include hypothyroidism, autoimmune arthritis, and delayed puberty. Some patients may show recurrent infections. The disorder results from an inborn error of cytokine signaling (summary by Flanagan et al., 2014 and Milner et al., 2015). Genetic Heterogeneity of Infantile-Onset Multisystem Autoimmune DiseaseSee also ADMIO2 (OMIM ), caused by mutation in the ZAP70 gene (OMIM ) on chromosome 2q12.

Related symptoms:

  • Short stature
  • Pain
  • Anemia
  • Abnormality of the dentition
  • Immunodeficiency


SOURCES: OMIM ORPHANET MENDELIAN

More info about STAT3-RELATED EARLY-ONSET MULTISYSTEM AUTOIMMUNE DISEASE

Low match MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA


Mitochondrial myopathy and sideroblastic anemia belongs to the heterogeneous family of metabolic myopathies. It is characterised by progressive exercise intolerance manifesting in childhood, onset of sideroblastic anaemia around adolescence, lactic acidaemia, and mitochondrial myopathy.

MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA Is also known as msa|mlasa|myopathy, lactic acidosis and sideroblastic anemia|mitochondrial myopathy and sideroblastic anemia

Related symptoms:

  • Intellectual disability
  • Seizures
  • Microcephaly
  • Scoliosis
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA

Low match SEVERE GENERALIZED RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA


Severe generalized recessive dystrophic epidermolysis bullosa (RDEB-sev gen) is the most severe subtype of dystrophic epidermolysis bullosa (DEB, see this term), formerly known as the Hallopeau-Siemens type, and is characterized by generalized cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement.

SEVERE GENERALIZED RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA Is also known as rdeb, hallopeau-siemens type|severe generalized rdeb|dystrophic epidermolysis bullosa, autosomal recessive|rdeb generalisata gravis|epidermolysis bullosa dystrophica, hallopeau-siemens type|rdeb-sev gen|autosomal recessive dystrophic epidermolysis bullosa

Related symptoms:

  • Growth delay
  • Neoplasm
  • Cataract
  • Anemia
  • Flexion contracture


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE GENERALIZED RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA

Low match MUCKLE-WELLS SYNDROME


Muckle-Wells syndrome (MWS) is an intermediate form of cryopyrin-associated periodic syndrome (CAPS; see this term) and is characterized by recurrent fever (with malaise and chills), recurrent urticaria-like skin rash, sensorineural deafness, general signs of inflammation (eye redness, headaches, arthralgia/myalgia) and potentially life-threatening secondary amyloidosis (AA type).

MUCKLE-WELLS SYNDROME Is also known as neutrophilic urticaria

Related symptoms:

  • Short stature
  • Anemia
  • Hepatomegaly
  • Fever
  • Optic atrophy


SOURCES: ORPHANET MENDELIAN

More info about MUCKLE-WELLS SYNDROME

Top 5 symptoms//phenotypes associated to Anemia and Delayed puberty

Symptoms // Phenotype % cases
Jaundice Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Splenomegaly Uncommon - Between 30% and 50% cases
Hemolytic anemia Uncommon - Between 30% and 50% cases
Failure to thrive Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Hepatomegaly Fatigue Intellectual disability

Rare Symptoms - Less than 30% cases


Pain Visual loss Narrow mouth Alopecia Constipation Respiratory tract infection Dysphagia Glaucoma Carious teeth Myopathy Ptosis Nail dystrophy Fragile skin Squamous cell carcinoma Milia Atrophic scars Skin vesicle Growth delay Corneal erosion Ankyloglossia Esophageal stricture Abnormality of the anus Mitten deformity Conjunctivitis Arthralgia Arthritis Muscle weakness Abnormality of metabolism/homeostasis Pallor Spherocytosis Autoimmune hemolytic anemia Cholelithiasis Stroke Cardiomyopathy Pneumonia Hypothyroidism Seizures Carcinoma Syndactyly Osteoporosis Osteopenia Skin rash Scarring Dilated cardiomyopathy Flexion contracture Toe syndactyly Nail dysplasia Progressive visual loss Abnormal blistering of the skin Hypoplasia of dental enamel Pruritus Neoplasm Cataract Increased serum ferritin Acidosis Lactic acidosis Increased serum lactate Progressive muscle weakness EMG abnormality Exercise intolerance Ragged-red muscle fibers Microcytic anemia Mitochondrial myopathy Hernia of the abdominal wall Stroke-like episode Distichiasis Sideroblastic anemia Hypochromic anemia Cytochrome C oxidase-negative muscle fibers Erythroid hyperplasia Generalized limb muscle atrophy Chronic lactic acidosis Joint contracture of the hand Abnormality of the nose Episcleritis Ichthyosis Scarring alopecia of scalp Absent toenail Absent fingernail Nephrotic syndrome Refractory anemia Loss of eyelashes Nephropathy Esophageal stenosis Squamous cell carcinoma of the skin Spontaneous esophageal perforation Fever Optic atrophy Macrocephaly Pes cavus Abdominal pain Myalgia Corneal scarring Atypical scarring of skin Recurrent aphthous stomatitis Restrictive ventilatory defect Neoplasm of the skin Camptodactyly of finger Broad foot Uveitis Dermal atrophy Progressive sensorineural hearing impairment Elevated erythrocyte sedimentation rate Abnormality of the voice Abnormality of the genital system Hypoalbuminemia Urticaria Ectropion Abnormal palate morphology Cranial nerve paralysis Vasculitis Malnutrition Blepharitis Type I diabetes mellitus Myoclonus Abnormality of the pituitary gland Hypoplasia of penis Primary amenorrhea Diabetes insipidus Adrenal hypoplasia Abnormality of the hypothalamus-pituitary axis Ectopic posterior pituitary Septo-optic dysplasia Epicanthus Hypoglycemia Short neck Low posterior hairline Rhabdomyolysis Normocytic anemia Nonspherocytic hemolytic anemia Cholecystitis Increased muscle fatiguability Hypotension Micropenis Feeding difficulties Headache Hypertension Heart murmur Poor appetite Hypochromic microcytic anemia Dark urine Reduced alpha/beta synthesis ratio Abnormality of the skeletal system Hypertrophic cardiomyopathy Cryptorchidism Erythema Palpitations Hyperbilirubinemia Reticulocytosis Elliptocytosis Erythroid hypoplasia Global developmental delay Normochromic anemia Hypotrichosis Encephalopathy Microcephaly Celiac disease Scleroderma Autoimmune thrombocytopenia Atopic dermatitis Recurrent ear infections Primary hypothyroidism Interstitial pneumonitis Scoliosis Interstitial pulmonary abnormality Micrognathia Muscular hypotonia High palate Edema Kyphosis Short nose Long philtrum Colitis Abnormal intestine morphology Abnormality of the hair Diabetes mellitus Aplasia cutis congenita Oral mucosal blisters Abnormality of the dentition Immunodeficiency Recurrent infections Thrombocytopenia Recurrent respiratory infections Hepatosplenomegaly Lymphopenia Autoimmunity Leukemia Lymphadenopathy Neutropenia Decreased antibody level in blood Eczema Inflammatory abnormality of the skin Abnormal lung morphology Renal amyloidosis



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