Abnormality of the skeletal system, and Bone marrow hypocellularity

Diseases related with Abnormality of the skeletal system and Bone marrow hypocellularity

In the following list you will find some of the most common rare diseases related to Abnormality of the skeletal system and Bone marrow hypocellularity that can help you solving undiagnosed cases.


Top matches:

Low match IDIOPATHIC APLASTIC ANEMIA


Aplastic anemia is a serious disorder of the bone marrow that affects between 2 and 5 persons per million per year. About 75% of these cases are classified as idiopathic (Young, 2000). In about 15% of cases a drug or infection can be identified that precipitates the aplasia, although why only some individuals are susceptible is unclear. In about 5 to 10% of patients, the aplastic anemia is constitutional--i.e., is familial or presents with one or more associated somatic abnormalities (summary by Vulliamy et al., 2002).

IDIOPATHIC APLASTIC ANEMIA Is also known as idiopathic bone marrow failure

Related symptoms:

  • Anemia
  • Bone marrow hypocellularity
  • Aplastic anemia
  • Hemophagocytosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about IDIOPATHIC APLASTIC ANEMIA

Low match FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF


Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair (summary by Deakyne and Mazin, 2011).For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.

Related symptoms:

  • Neoplasm
  • Anemia
  • Bone marrow hypocellularity
  • Abnormality of chromosome stability


SOURCES: OMIM MENDELIAN

More info about FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF

Low match AUTOSOMAL DOMINANT APLASIA AND MYELODYSPLASIA


Autosomal dominant aplasia and myelodysplasia is a rare, genetic, hematologic disorder characterized by bone marrow failure which manifests with aplastic anemia and/or myelodysplasia, associated with hearing/ear abnormalities (such as deafness, labyrinthitis), inherited in an autosomal dominant manner.

AUTOSOMAL DOMINANT APLASIA AND MYELODYSPLASIA Is also known as autosomal dominant aplastic anemia and myelodysplasia

Related symptoms:

  • Hearing impairment
  • Anemia
  • Pancytopenia
  • Bone marrow hypocellularity
  • Myelodysplasia


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT APLASIA AND MYELODYSPLASIA

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Other less relevant matches:

Low match CHROMOSOME 5Q DELETION SYNDROME


The 5q- syndrome is a myelodysplastic syndrome characterized by a defect in erythroid differentiation. Patients have severe macrocytic anemia, normal or elevated platelet counts, normal or reduced neutrophil counts, erythroid hypoplasia in the bone marrow, and hypolobated micromegakaryocytes (Ebert et al., 2008).

CHROMOSOME 5Q DELETION SYNDROME Is also known as mar|macrocytic anemia, refractory, due to 5q deletion|5q- syndrome

Related symptoms:

  • Neoplasm
  • Anemia
  • Thrombocytopenia
  • Leukemia
  • Neutropenia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about CHROMOSOME 5Q DELETION SYNDROME

Low match PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 4; PFBMFT4


Related symptoms:

  • Abnormal lung morphology
  • Bone marrow hypocellularity
  • Pulmonary fibrosis
  • Premature graying of hair


SOURCES: OMIM MENDELIAN

More info about PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 4; PFBMFT4

Low match INTERMEDIATE OSTEOPETROSIS


Intermediate osteopetrosis is a rare, genetic primary bone dysplasia with increased bone density characterized by susceptibility to fractures after minor trauma, anemia, and characteristic skeletal radiographic changes, such as sandwich vertebra, bone-within-bone appearance, Erlenmeyer-shaped femoral metaphysis, and mild osteosclerosis of the skull base. Dental anomalies and visual impairment secondary to optic nerve compression have been rarely described.

INTERMEDIATE OSTEOPETROSIS Is also known as autosomal recessive intermediate osteopetrosis|osteopetrosis, autosomal recessive, intermediate form

Related symptoms:

  • Seizures
  • Short stature
  • Pain
  • Pancytopenia
  • Increased bone mineral density


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about INTERMEDIATE OSTEOPETROSIS

Low match HYPERCOAGULABILITY SYNDROME DUE TO GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY


The combination of a propensity for venous thrombosis and seizures has been reported in two unrelated kindreds. Transmission is autosomal recessive. It results from a point mutation of PIGM, which reduces transcription of PIGM and blocks mannosylation of glycosylphosphatidylinositol (GPI), leading to partial but severe deficiency of GPI.

HYPERCOAGULABILITY SYNDROME DUE TO GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY Is also known as pigm-cdg|congenital disorder of glycosylation due to pigm deficiency|glycosylphosphatidylinositol biosynthesis defect 1|gpibd1

Related symptoms:

  • Intellectual disability
  • Seizures
  • Abnormal facial shape
  • Hypertension
  • Hepatomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPERCOAGULABILITY SYNDROME DUE TO GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY

Low match THIOPURINES, POOR METABOLISM OF, 1; THPM1


THPM1 is an autosomal recessive trait associated with severe hematopoietic toxicity when patients are treated with standard doses of the antineoplastic agents 6-mercaptopurine (6MP) or 6-thioguanine (6TG), or the immunosuppressant azathioprine (AZA) (Lennard et al., 1989).The thiopurines are prodrugs that require extensive metabolism in order to exert their cytotoxic action. Azathioprine is nonenzymatically reduced to 6MP. 6MP and 6TG are activated by HPRT (OMIM ) and subsequent steps to form cytotoxic thioguanine nucleotides (TGNs) which are incorporated into DNA and/or RNA, causing DNA-protein cross-links, single-strand breaks, interstrand cross-links, and sister chromatid exchange. TPMT functions mainly to inactivate these drugs; thus, a deficiency of TPMT results in increased conversion to toxic TGNs, which can result in myelosuppression (Coulthard and Hogarth, 2005). However, 6MP is unique in that it can also be converted via TPMT into a methyl-thioinosine 5-prime monophosphate (MeTIMP), a metabolite that inhibits de novo purine synthesis and likely contributes to the cytotoxic effect of 6MP (Vogt et al., 1993; Krynetski et al., 1995; Coulthard and Hogarth, 2005). Genetic Heterogeneity of Poor Thiopurine MetabolismSee also THPM2 (OMIM ), caused by variation in the NUDT15 gene (OMIM ) on chromosome 13q14.

THIOPURINES, POOR METABOLISM OF, 1; THPM1 Is also known as thiopurine s-methyltransferase deficiency|tpmt deficiency|tpmtd

Related symptoms:

  • Abnormality of metabolism/homeostasis
  • Autoimmunity
  • Leukemia
  • Pancytopenia
  • Bone marrow hypocellularity


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about THIOPURINES, POOR METABOLISM OF, 1; THPM1

Low match DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 3; DKCB3


Dyskeratosis congenita is a genetic disorder of defective tissue maintenance, impaired stem cell function, and cancer predisposition caused by short telomeres resulting from a defect in telomerase. Clinical manifestations may be seen in the skin as leukoplakia, nail dystrophy, and reticular pigmentation, in the bone marrow as pancytopenia, and in the lung as pulmonary fibrosis, as well as in other tissues (summary by Zhong et al., 2011).For a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 (OMIM ).

Related symptoms:

  • Neoplasm
  • Carcinoma
  • Nail dystrophy
  • Abnormality of skin pigmentation
  • Nail dysplasia


SOURCES: OMIM MENDELIAN

More info about DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 3; DKCB3

Top 5 symptoms//phenotypes associated to Abnormality of the skeletal system and Bone marrow hypocellularity

Symptoms // Phenotype % cases
Anemia Uncommon - Between 30% and 50% cases
Pancytopenia Uncommon - Between 30% and 50% cases
Neoplasm Uncommon - Between 30% and 50% cases
Pulmonary fibrosis Uncommon - Between 30% and 50% cases
Leukemia Rare - less than 30% cases
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Other less frequent symptoms

Patients with Abnormality of the skeletal system and Bone marrow hypocellularity. may also develop some of the following symptoms:

Rare Symptoms - Less than 30% cases


Aplastic anemia Seizures Myelodysplasia Abnormal lung morphology Portal vein thrombosis Hemoglobinuria Atonic seizures Venous thrombosis Portal hypertension Abnormality of metabolism/homeostasis Absence seizures Splenomegaly Paroxysmal nocturnal hemoglobinuria Abnormality of blood and blood-forming tissues Autoimmunity Pancreatitis Leukopenia Glomerulonephritis Hypertension Acute lymphoblastic leukemia Carcinoma Nail dystrophy Abnormality of skin pigmentation Nail dysplasia Squamous cell carcinoma Oral leukoplakia Hepatomegaly Osteopetrosis Abnormal facial shape Erythroid hypoplasia Hemophagocytosis Abnormality of chromosome stability Hearing impairment Pneumonia Thrombocytopenia Neutropenia Macrocytic anemia Acute leukemia Increased mean platelet volume Refractory anemia Pure red cell aplasia Intellectual disability Abnormal megakaryocyte morphology Refractory macrocytic anemia Premature graying of hair Short stature Pain Increased bone mineral density Hypocalcemia Erlenmeyer flask deformity of the femurs Cortical sclerosis Dense metaphyseal bands Squamous cell carcinoma of the tongue



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