Anemia, and Constipation

Diseases related with Anemia and Constipation

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


Top matches:

Low match PORPHYRIA DUE TO ALA DEHYDRATASE DEFICIENCY


Porphyria of doss or deficiency of delta-aminolevulinic acid dehydratase (DALAD) is an extremely rare form of acute hepatic porphyria (see this term) characterized by neuro-visceral attacks without cutaneous manifestations.

PORPHYRIA DUE TO ALA DEHYDRATASE DEFICIENCY Is also known as porphyria due to alad deficiency|doss porphyria|delta-aminolevulinate dehydratase deficiency|alad porphyria|porphyria, alad|porphyria of doss|alad deficiency|porphyria due to delta-aminolevulinate dehydratase deficiency|porphobilinogen synthase deficiency

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Failure to thrive
  • Muscular hypotonia
  • Pain


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PORPHYRIA DUE TO ALA DEHYDRATASE DEFICIENCY

Low match DESMOPLASTIC SMALL ROUND CELL TUMOR


Desmoplastic small round cell tumor (DSRCT) is an aggressive soft tissue cancer that typically arises in serous lined surfaces of the abdominal or pelvic peritoneum, and spreads to the omentum, lymph nodes and hematogenously disseminates especially to the liver. Extraserous primary location has been reported in exceptional cases.

DESMOPLASTIC SMALL ROUND CELL TUMOR Is also known as dsrct

Related symptoms:

  • Neoplasm
  • Pain
  • Anemia
  • Hepatomegaly
  • Constipation


SOURCES: MESH ORPHANET MENDELIAN

More info about DESMOPLASTIC SMALL ROUND CELL TUMOR

Low match MALT LYMPHOMA


MALT (mucosa-associated lymphoid tissue) lymphoma is a rare form of malignant non-Hodgkin lymphoma (see this term) that affects B cells and grows at the expense of lymphoid tissue associated with mucous membranes, but also occurs, more rarely, in lymph nodes.

MALT LYMPHOMA Is also known as maltoma|mucosa-associated lymphatic tissue lymphoma|extranodal marginal zone b-cell lymphoma|mucosa-associated lymphoid tissue lymphoma

Related symptoms:

  • Anemia
  • Visual impairment
  • Fever
  • Fatigue
  • Constipation


SOURCES: ORPHANET MENDELIAN

More info about MALT LYMPHOMA

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Other less relevant matches:

Low match EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL DOMINANT; DDEB


Epidermolysis bullosa dystrophica is a clinically heterogeneous disorder characterized by blistering and scarring of the skin and mucous membranes in response to mechanical force. Microscopic examination of the skin shows cleavage below the basement membrane within the papillary dermis. All forms are caused by mutation in the COL7A1 gene. Fine et al. (2000) proposed that the Cockayne-Touraine and Pasini subtypes of dystrophic epidermolysis bullosa be combined into 1 category known as 'dominant dystrophic epidermolysis bullosa' (DDEB), since both are caused by mutations in the COL7A1 gene and show overlapping clinical features.Epidermolysis bullosa simplex (see, e.g., {131800}) and epidermolysis bullosa junctional (see, e.g., {226700}) are clinically and genetically distinct disorders characterized by tissue separation at the levels of the basal keratinocyte layer and lamina lucida, respectively.

EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL DOMINANT; DDEB Is also known as epidermolysis bullosa dystrophica, pasini type|ebdd|epidermolysis bullosa dystrophica, cockayne-touraine type|dystrophic epidermolysis bullosa, autosomal dominant|ebdct|albopapuloid dominant dystrophic epidermolysis bullosa

Related symptoms:

  • Anemia
  • Dysphagia
  • Constipation
  • Scarring
  • Papule


SOURCES: OMIM ORPHANET MENDELIAN

More info about EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL DOMINANT; DDEB

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 GASTROINTESTINAL STROMAL TUMOR


Gastrointestinal stromal tumor (GIST) is the most common mesenchymal neoplasm of the gastrointestinal (GI) tract, typically presenting in adults over the age of 40 (mean age 63), and only rarely in children, in various regions of the GI tract, most commonly the stomach or small intestine but also less commonly in the esophagus, appendix, rectum and colon. GISTs can be asymptomatic or present with various non-specific signs, depending on the location and size of tumor, such as loss of appetite, anemia, weight loss, fatigue, abdominal discomfort or fullness, nausea, vomiting, as well as an abdominal mass, blood in stool, and intestinal obstruction. GISTs can also be seen in familial syndromes such as Carney triad and neurofibromatosis type 1.

GASTROINTESTINAL STROMAL TUMOR Is also known as gastrointestinal stromal sarcoma|gist

Related symptoms:

  • Neoplasm
  • Pain
  • Anemia
  • Fever
  • Fatigue


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about GASTROINTESTINAL STROMAL TUMOR

Low match NEONATAL SEVERE PRIMARY HYPERPARATHYROIDISM


Neonatal severe primary hyperparathyroidism (NSHPT) is characterized by severe hypercalcemia (> 3.5 mM) from birth and associated with major hyperparathyroidism.

NEONATAL SEVERE PRIMARY HYPERPARATHYROIDISM Is also known as nhpt|nsph|nshpt|hyperparathyroidism, neonatal severe primary

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Neoplasm
  • Failure to thrive
  • Muscular hypotonia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about NEONATAL SEVERE PRIMARY HYPERPARATHYROIDISM

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 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

Low match SHWACHMAN-DIAMOND SYNDROME 2; SDS2


Shwachman-Diamond syndrome-2 (SDS2) is characterized by exocrine pancreatic dysfunction, hematopoietic abnormalities, short stature, and metaphyseal dysplasia (Stepensky et al., 2017).For a discussion of genetic heterogeneity of Shwachman-Diamond syndrome, see SDS1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about SHWACHMAN-DIAMOND SYNDROME 2; SDS2

Top 5 symptoms//phenotypes associated to Anemia and Constipation

Symptoms // Phenotype % cases
Failure to thrive Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Weight loss Uncommon - Between 30% and 50% cases
Nausea and vomiting Uncommon - Between 30% and 50% cases
Abdominal pain Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Hepatomegaly Abnormality of the thyroid gland Neoplasm Diarrhea Dysphagia Short stature Lymphadenopathy Pain Muscular hypotonia Vomiting

Rare Symptoms - Less than 30% cases


Respiratory tract infection Recurrent respiratory infections Fatigue Fever Gastrointestinal obstruction Intestinal obstruction Hypercalcemia Nail dystrophy Carious teeth Gastrointestinal hemorrhage Mediastinal lymphadenopathy Skin rash Metaphyseal irregularity Milia Atrophic scars Skin vesicle Corneal erosion Esophageal stricture Feeding difficulties Abnormal blistering of the skin Steatorrhea Neoplasm of the pancreas Splenomegaly Primary hyperparathyroidism Sarcoma Parathyroid adenoma Global developmental delay Abdominal distention Ascites Feeding difficulties in infancy Hyperparathyroidism Calcinosis Hashimoto thyroiditis Thyroiditis Protuberant abdomen Hypophosphatemia Xanthomatosis Cherry red spot of the macula Bone-marrow foam cells Sea-blue histiocytosis Diffuse reticular or finely nodular infiltrations Polyuria Foam cells with lamellar inclusion bodies Depressivity Diabetes mellitus Neoplasm of the endocrine system Hyperphosphaturia Prolonged neonatal jaundice Rigidity Muscle weakness Pruritus Hyporeflexia Osteoporosis Jaundice Hepatosplenomegaly Intellectual disability Elevated circulating parathyroid hormone level Irritability Abnormality of calcium-phosphate metabolism Parathyroid hyperplasia Sleep disturbance Athetosis Microcytic anemia Spasticity Areflexia Seizures Anorexia Mild short stature Myopia Thrombocytopenia Neutropenia High myopia Rhizomelia Severe muscular hypotonia Genu varum Laryngomalacia Metaphyseal widening Neurodevelopmental delay Low-set ears Metaphyseal dysplasia Exocrine pancreatic insufficiency Severe failure to thrive Mild global developmental delay Prolonged partial thromboplastin time Prolonged prothrombin time Normocytic anemia Subglottic stenosis Laryngeal cleft High palate Growth delay Thromboembolism Acanthocytosis Poor appetite Increased circulating gonadotropin level Growth hormone excess Increased circulating cortisol level Abnormality of abdomen morphology Episodic abdominal pain Prolactin excess Intrahepatic cholestasis Chronic fatigue Stomatitis Microcephaly Intermittent jaundice Adrenocortical adenoma Normochromic anemia Extrahepatic cholestasis Subcutaneous lipoma Glossitis Lack of bowel sounds Necrolytic migratory erythema Abnormal gastrointestinal motility Pituitary adenoma Mastocytosis Polydipsia Scarring Abnormality of the peritoneum Abdominal mass Visual impairment Hyperhidrosis Pulmonary infiltrates B-cell lymphoma Abnormal nasolacrimal system morphology Posterior uveitis Papule Neoplasm of the central nervous system Nail dysplasia Abnormality of the fingernails Hypopigmented skin patches Anonychia Abnormal toenail morphology Dystrophic toenail Urinary retention Cheilitis Testicular neoplasm Ileus Congenital localized absence of skin Polyneuropathy Hypertension Peripheral neuropathy Respiratory insufficiency Behavioral abnormality Paresthesia Tachycardia Hemolytic anemia Sensory neuropathy Psychosis Neoplasm of the lung Hemiparesis Hyponatremia Motor axonal neuropathy Respiratory paralysis Wrist drop Abdominal colic Elevated urinary delta-aminolevulinic acid Cachexia Ovarian neoplasm Urethral stricture Visual loss Hypercalciuria Neoplasm of the stomach Schwannoma Gastrointestinal stroma tumor Leiomyosarcoma Soft tissue sarcoma Neoplasm of the small intestine Neoplasm of the rectum Esophageal neoplasm Neoplasm of the colon Neoplasm of the gastrointestinal tract Lipoma Giant hypertrophic gastritis Dyspnea Narrow chest Recurrent fractures Cyanosis Abnormality of the metaphysis Aminoaciduria Tachypnea Paraganglioma Irregular hyperpigmentation Alopecia Oral mucosal blisters Narrow mouth Hypotrichosis Delayed puberty Abnormality of the hair Squamous cell carcinoma Fragile skin Aplasia cutis congenita Ankyloglossia Abnormality of the anus Neurofibromas Mitten deformity Coarse facial features Pallor Abnormality of the liver Hyperpigmentation of the skin Eosinophilia Urticaria Large hands Hypermelanotic macule Hyperechogenic pancreas



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