Hearing impairment, and Bone marrow hypocellularity

Diseases related with Hearing impairment and Bone marrow hypocellularity

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

Top matches:

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

Autosomal dominant osteopetrosis type I (ADO I) is a sclerosing bone disorder characterized by skeletal densification that predominantly involves the cranial vault.

AUTOSOMAL DOMINANT OSTEOPETROSIS TYPE 1 Is also known as osteopetrosis, autosomal dominant, type i

Related symptoms:

  • Seizures
  • Short stature
  • Hearing impairment
  • Pain
  • Headache


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about AUTOSOMAL DOMINANT OSTEOPETROSIS TYPE 1

Severe congenital neutropenia-3 is an autosomal recessive bone marrow failure disorder characterized by low numbers of neutrophils, increased susceptibility to bacterial and fungal infections, and increased risk of developing myelodysplastic syndrome or acute myeloid leukemia. In addition, patients with HAX1 mutations affecting both isoform A and B of the gene develop neurologic abnormalities (summary by Boztug et al., 2010).The Swedish physician Rolf Kostmann (1956) described an autosomal recessive hematologic disorder, termed infantile agranulocytosis, with severe neutropenia with an absolute neutrophil count below 0.5 x 10(9)/l and early onset of severe bacterial infections. The disorder was later termed Kostmann syndrome (Skokowa et al., 2007). Lekstrom-Himes and Gallin (2000) discussed severe congenital neutropenia in a review of immunodeficiencies caused by defects in phagocytes.In addition to Kostmann agranulocytosis, recessively inherited neutropenic syndromes include congenital neutropenia with eosinophilia (OMIM ), Chediak-Higashi syndrome (OMIM ), and Fanconi pancytopenic syndrome (see {227650}).For a phenotypic description and a discussion of genetic heterogeneity of severe congenital neutropenia, see SCN1 (OMIM ).

NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE; SCN3 Is also known as agranulocytosis, infantile|kostmann disease

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE; SCN3

Other less relevant matches:

Monocytopenia with susceptibility to infections is a rare, genetic, primary immunodeficiency disorder characterized by profound circulating monocytopenia, B- and NK-cell lymphopenia and severe dentritic cell decrease, which manifests clinically with disseminated mycobacterial and viral infections, as well as opportunistic fungal and parasitic infections and frequent pulmonary alveolar proteinosis. Predisposition to developping myeloid neoplasms is associated.

MONOCYTOPENIA WITH SUSCEPTIBILITY TO INFECTIONS Is also known as dendritic cell, monocyte, b and nk lymphoid deficiency|dcml|dendritic cell, monocyte, b lymphocyte, and natural killer lymphocyte deficiency|monocytopenia with susceptibility to mycobacterial, fungal, and papillomavirus infections and myelodysplasia|monoc

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Anemia
  • Hypertension
  • Immunodeficiency


SOURCES: OMIM ORPHANET MENDELIAN

More info about MONOCYTOPENIA WITH SUSCEPTIBILITY TO INFECTIONS

Fanconi anemia of complementation group P is an autosomal recessive disorder characterized by increased chromosomal instability and progressive bone marrow failure. Some patients have skeletal anomalies (summary by Kim et al., 2011).For a general description and a discussion of genetic heterogeneity of Fanconi anemia (FA), see {227650}.

Related symptoms:

  • Short stature
  • Hearing impairment
  • Microcephaly
  • Growth delay
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about FANCONI ANEMIA, COMPLEMENTATION GROUP P; FANCP

Autosomal recessive osteopetrosis-5 is a form of infantile malignant osteopetrosis, characterized by defective osteoclast function resulting in decreased bone resorption and generalized osteosclerosis. Defective resorption causes development of densely sclerotic fragile bones and progressive obliteration of the marrow spaces and cranial foramina. Marrow obliteration is associated with extramedullary hematopoiesis and hepatosplenomegaly, and results in anemia and thrombocytopenia, whereas nerve entrapment accounts for progressive blindness and hearing loss. Other major manifestations include failure to thrive, pathologic fractures, and increased infection rate. Most affected children succumb to severe bone marrow failure and overwhelming infection in the first few years of life (Quarello et al., 2004).

OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5; OPTB5 Is also known as osteopetrosis, infantile malignant 3

Related symptoms:

  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly
  • Failure to thrive
  • Anemia


SOURCES: MESH OMIM MENDELIAN

More info about OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5; OPTB5

Fanconi anemia complementation group S is an autosomal recessive disorder characterized by developmental delay apparent from infancy, short stature, microcephaly, and coarse dysmorphic features. Laboratory studies show defective DNA repair and increased chromosomal breakage during stress. Some patients may have radial ray anomalies, anemia, and increased risk of cancer; patients often have a family history of cancer in family members who have heterozygous mutations (summary by Freire et al., 2018).For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about FANCONI ANEMIA, COMPLEMENTATION GROUP S; FANCS

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}.

FANCONI ANEMIA, COMPLEMENTATION GROUP D2; FANCD2 Is also known as facd|fad2|fa4|fanconi anemia, complementation group d|fanconi pancytopenia, type 4|fancd

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Neoplasm


SOURCES: OMIM MENDELIAN

More info about FANCONI ANEMIA, COMPLEMENTATION GROUP D2; FANCD2

Fanconi anemia 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}.

FANCONI ANEMIA, COMPLEMENTATION GROUP C; FANCC Is also known as facc|fac|fa3|fanconi pancytopenia, type 3

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Neoplasm


SOURCES: OMIM MENDELIAN

More info about FANCONI ANEMIA, COMPLEMENTATION GROUP C; FANCC

Dyskeratosis congenita is an inherited bone marrow failure syndrome classically characterized by the triad of mucosal leukoplakia, nail dysplasia, and abnormal skin pigmentation. Affected individuals have an increased risk of aplastic anemia and malignancy. Less common features include epiphora, premature gray hair, microcephaly, developmental delay, and pulmonary fibrosis, among others. The phenotype is highly variable. All affected individuals have shortened telomeres due to a defect in telomere maintenance (summary by Savage et al., 2008).For a discussion of genetic heterogeneity of dyskeratosis congenita, see DCKA1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3; DKCA3

Top 5 symptoms//phenotypes associated to Hearing impairment and Bone marrow hypocellularity

Symptoms // Phenotype % cases
Anemia Common - Between 50% and 80% cases
Pancytopenia Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Thrombocytopenia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hearing impairment and Bone marrow hypocellularity. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Neutropenia Abnormality of skin pigmentation Leukemia Cryptorchidism Intellectual disability Short thumb Growth delay Global developmental delay Cafe-au-lait spot Horseshoe kidney Absent thumb Absent radius Microphthalmia Neoplasm Aplastic anemia Myelodysplasia

Rare Symptoms - Less than 30% cases

Leukopenia Chromosomal breakage induced by crosslinking agents Complete duplication of thumb phalanx Duplicated collecting system Reticulocytopenia Deficient excision of UV-induced pyrimidine dimers in DNA Ectopic kidney Prolonged G2 phase of cell cycle Renal agenesis Bruising susceptibility Carcinoma Small for gestational age Abnormal heart morphology Abnormality of cardiovascular system morphology Strabismus Abnormal facial shape Hypertension Blepharophimosis Hypopigmentation of the skin Failure to thrive Intrauterine growth retardation Delayed speech and language development Anemic pallor Hypergonadotropic hypogonadism Ataxia Seizures Generalized osteosclerosis Osteopetrosis Hepatosplenomegaly Otitis media Acute myeloid leukemia Increased bone mineral density Myeloid leukemia Conductive hearing impairment Coarse facial features Upslanted palpebral fissure Prominent nasal bridge Aseptic necrosis Hodgkin lymphoma Sparse hair Interstitial pulmonary abnormality Hip dislocation Oral leukoplakia Alopecia Clinodactyly Esophageal stricture Dental malocclusion Epicanthus Phimosis Reticulated skin pigmentation Hypertelorism Decreased osteoclast count Absence of renal corticomedullary differentiation Cranial hyperostosis Extramedullary hematopoiesis Arnold-Chiari type I malformation Severe vision loss Anteverted nares Pulmonary fibrosis Premature graying of hair Duodenal stenosis Osteoporosis Osteopenia Retinopathy Nail dystrophy Dry skin Lymphoma Arnold-Chiari malformation Gastrointestinal hemorrhage Nail dysplasia Cerebral calcification Fine hair Abnormal lung morphology Ovarian carcinoma Macrodontia Long eyelashes Stomach cancer Thick upper lip vermilion Chromosome breakage Ovarian neoplasm Proximal placement of thumb Breast carcinoma Hyperpigmentation of the skin Abnormal intestine morphology Narrow palate Portal hypertension Low anterior hairline Epiphora Cerebellar hypoplasia Pathologic fracture Squamous cell carcinoma of the tongue Brain atrophy Sensorineural hearing impairment Acute lymphoblastic leukemia Granulocytopenia Congenital neutropenia Monocytosis Tonsillitis Agranulocytosis Immunodeficiency Increased antibody level in blood Recurrent infections Pneumonia Hypothyroidism Decreased antibody level in blood Nephrotic syndrome Pulmonary arterial hypertension Recurrent otitis media Thrombocytosis Eosinophilia Lymphopenia Thickened calvaria Pain Headache Recurrent fractures Hypocalcemia Abnormality of pelvic girdle bone morphology Abnormality of the vertebral column Spasticity Recurrent bacterial infections Motor delay Peripheral neuropathy Cerebellar atrophy Abnormality of the nervous system Sepsis Clumsiness Meningitis Lymphedema Spontaneous abortion Hepatic failure Blindness Pelvic kidney Generalized hypotonia Visual impairment Optic atrophy Ventriculomegaly Hydrocephalus Hypertonia Squamous cell carcinoma Cerebral atrophy Abnormality of metabolism/homeostasis Proptosis Muscular hypotonia of the trunk Facial palsy Irritability Craniosynostosis Vitiligo Hypoplasia of the radius Venous thrombosis Severe viral infections Severe sensorineural hearing impairment Recurrent viral infections Verrucae B lymphocytopenia Recurrent fungal infections Panniculitis Alveolar proteinosis Chronic myelomonocytic leukemia Short palpebral fissure Monocytopenia Recurrent mycobacterium avium complex infections Abnormal natural killer cell morphology Micrognathia Abnormality of the skeletal system Abnormality of the kidney Bulbous nose Pulmonary hemorrhage


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