Anemia, and Nail dysplasia

Diseases related with Anemia and Nail dysplasia

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


Top matches:

Low match BLOOD GROUP, SS; SS


Ss blood group antigens reside on the red-cell glycoprotein GYPB. The S and s antigens result from a polymorphism at amino acid 29 of GYPB, where S has met29 and s has thr29. The U antigen refers to a short extracellular sequence in GYPB located near the membrane. GYPB, glycophorin A (GYPA ), and glycophorin E (GYPE ) are closely linked on chromosome 4q31. Antigens of the MN blood group (OMIM ) reside on GYPA. The M and N antigens differ at amino acids 1 and 5 of GYPA, where M is ser-ser-thr-thr-gly, and N is leu-ser-thr-thr-glu. The N terminus of GYPB is essentially identical to that of GYPA except that it always expresses the N antigen, denoted 'N' or N-prime. Recombination and gene conversion between GYPA, GYPB, and GYPE lead to hybrid glycophorin molecules and generation of low-incidence antigens. Thus, the MN and Ss blood groups are together referred to as the MNSs blood group system (see {111300}). Recombination results in 3 glycophorin-null phenotypes: En(a-) cells lack GYPA due to recombination between GYPA and GYPB; GYPB-negative (S-s-U-) cells lack GYPB due to recombination in GYPB; and M(k) cells (M-N-S-s-U-) lack both GYPA and GYPB due to recombination between GYPA and GYPE. Individuals with glycophorin-null phenotypes have decreased sialic acid content and increased resistance to malarial infection (see {611162}). GYPA and GYPB are not essential for red-cell development or survival, and GYPA- and GYPB-null phenotypes are not associated with anemia or altered red-cell function (review by Cooling, 2015).

BLOOD GROUP, SS; SS Is also known as ss blood group

Related symptoms:

  • Neoplasm
  • Anemia


SOURCES: OMIM MENDELIAN

More info about BLOOD GROUP, SS; SS

Low match EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE; EBSDM


Epidermolysis bullosa simplex (EBS) is a clinically and genetically heterogeneous skin disorder characterized by recurrent blistering of the skin following minor physical trauma as a result of cytolysis within basal epidermal cells. Most forms show autosomal dominant inheritance. The Dowling-Meara type of EBS is the most severe form, with generalized blistering that often occurs in clusters (herpetiform), is often associated with hyperkeratosis of the palms and soles, and shows clumping of keratin filaments in basal epidermal cells. The other 2 main types of EBS include the milder generalized Koebner type (OMIM ) and the milder and localized Weber-Cockayne type (OMIM ) (Fine et al., 2008). All 3 forms can be caused by mutation in the KRT5 or the KRT14 gene. See {601001} for a rare autosomal recessive form caused by mutation in the KRT14 gene.

EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE; EBSDM Is also known as epidermolysis bullosa simplex, generalized severe|epidermolysis bullosa herpetiformis, dowling-meara type

Related symptoms:

  • Growth delay
  • Anemia
  • Hyperkeratosis
  • Scarring
  • Nail dystrophy


SOURCES: OMIM MENDELIAN

More info about EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE; EBSDM

Low match DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6; DKCA6


Dyskeratosis congenita is a multisystem disorder caused by defective telomere maintenance. Features are variable and include bone marrow failure, nail dysplasia, oral leukoplakia, and increased risk of cancer (summary by Kocak et al., 2014).For a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Microcephaly
  • Growth delay
  • Neoplasm
  • Anemia


SOURCES: OMIM MENDELIAN

More info about DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6; DKCA6

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Other less relevant matches:

Low match RECURRENT INFECTION DUE TO SPECIFIC GRANULE DEFICIENCY


Specific granule deficiency-2 is an autosomal recessive immunologic disorder characterized by recurrent infections due to defective neutrophil development. Bone marrow findings include hypercellularity, abnormal megakaryocytes, and features of progressive myelofibrosis with blasts. The disorder is apparent from infancy, and most patients die in early childhood unless they undergo hematopoietic stem cell transplantation. Some patients may have additional findings, including delayed development, mild dysmorphic features, and distal skeletal anomalies (summary by Witzel et al., 2017).For a discussion of genetic heterogeneity of SGD, see SGD1 (OMIM ).

RECURRENT INFECTION DUE TO SPECIFIC GRANULE DEFICIENCY Is also known as neutrophil-specific granule deficiency

Related symptoms:

  • Global developmental delay
  • Anemia
  • Abnormality of the skeletal system
  • Diarrhea
  • Recurrent infections


SOURCES: OMIM ORPHANET MENDELIAN

More info about RECURRENT INFECTION DUE TO SPECIFIC GRANULE DEFICIENCY

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 REVESZ SYNDROME


Revesz syndrome is a rare severe phenotypic variant of dyskeratosis congenita (DC; see this term) with an onset in early childhood, characterized by features of DC (e.g. skin hyper/hypopigmentation, nail dystrophy, oral leukoplakia, high risk of bone marrow failure (BMF) and cancer, developmental delay sparse and fine hair) in conjunction with bilateral exudative retinopathy, and intracranial calcifications.

REVESZ SYNDROME Is also known as exudative retinopathy with bone marrow failure|dkca5|dyskeratosis congenita, autosomal dominant 5|dyskeratosis congenita with bilateral exudative retinopathy|retinopathy-anemia-central nervous system anomalies syndrome|revesz-debuse syndrome

Related symptoms:

  • Global developmental delay
  • Ataxia
  • Growth delay
  • Nystagmus
  • Anemia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about REVESZ SYNDROME

Low 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

Low match JUNCTIONAL EPIDERMOLYSIS BULLOSA, GENERALIZED SEVERE


Junctional epidermolysis bullosa, Herlitz-type is a severe subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by blisters and extensive erosions, localized to the skin and mucous membranes.

JUNCTIONAL EPIDERMOLYSIS BULLOSA, GENERALIZED SEVERE Is also known as epidermolysis bullosa letalis|junctional epidermolysis bullosa, herlitz type|junctional epidermolysis bullosa, herlitz-pearson type|jeb-herlitz type|jeb-h|epidermolysis bullosa junctionalis, herlitz type|epidermolysis bullosa, junctional, herlitz-pearson

Related symptoms:

  • Failure to thrive
  • Anemia
  • Feeding difficulties
  • Respiratory insufficiency
  • Syndactyly


SOURCES: OMIM ORPHANET MENDELIAN

More info about JUNCTIONAL EPIDERMOLYSIS BULLOSA, GENERALIZED SEVERE

Low match COMBINED IMMUNODEFICIENCY DUE TO STIM1 DEFICIENCY


Combined immunodeficiency (CID) due to STIM1 deficiency is a form of CID due to Calcium release activated Ca2+(CRAC) channel dysfunction (see this term) characterized by recurrent infections, autoimmunity, congenital myopathy and ectodermal dysplasia.

COMBINED IMMUNODEFICIENCY DUE TO STIM1 DEFICIENCY Is also known as cid due to stim1 deficiency|immune dysfunction with t-cell inactivation due to calcium entry defect 2|stim1 deficiency

Related symptoms:

  • Generalized hypotonia
  • Muscular hypotonia
  • Anemia
  • Myopathy
  • Diarrhea


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO STIM1 DEFICIENCY

Low match DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2; DKCA2


Dyskeratosis congenita is a multisystem disorder caused by defective telomere maintenance. Features are variable and include bone marrow failure, pulmonary and liver fibrosis, and premature graying of the hair (summary by Armanios et al., 2005).For a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2; DKCA2

Top 5 symptoms//phenotypes associated to Anemia and Nail dysplasia

Symptoms // Phenotype % cases
Nail dystrophy Common - Between 50% and 80% cases
Growth delay Uncommon - Between 30% and 50% cases
Esophageal stricture Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Thrombocytopenia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Diarrhea Carious teeth Bone marrow hypocellularity Cerebellar hypoplasia Oral leukoplakia Aplastic anemia Intrauterine growth retardation Microcephaly Milia Atrophic scars Hypoplasia of dental enamel Abnormal blistering of the skin

Rare Symptoms - Less than 30% cases


Recurrent bacterial infections Immunodeficiency Short stature Chronic diarrhea Dilated cardiomyopathy Abnormality of skin pigmentation Reticulated skin pigmentation Ridged fingernail Urethral stricture Congenital localized absence of skin Pneumonia Neoplasm Esophageal stenosis Recurrent infections Skin vesicle Sepsis Pulmonary fibrosis Palmoplantar hyperkeratosis Failure to thrive Scarring Abnormality of the dentition Leukopenia Hyperkeratosis Osteoporosis Squamous cell carcinoma of the skin Skin erosion Ankyloglossia Onycholysis Laryngeal stenosis Aplasia cutis congenita Recurrent skin infections Pyloric stenosis Narrow mouth Hoarse voice Dehydration Hypotrichosis Dyspnea Respiratory failure Laryngeal stridor Paronychia Abnormality of dental enamel Mitten deformity Sarcoma Pulmonary infiltrates Aseptic necrosis Premature graying of hair Hepatic fibrosis Cardiomyopathy Intermittent diarrhea Recurrent lower respiratory tract infections Amelogenesis imperfecta Hypoplasia of the iris Episodic fever Autoimmune hemolytic anemia Anhidrosis Syndactyly Junctional split Recurrent pneumonia Hypohidrosis Nephrotic syndrome Eczema Asthma Hemolytic anemia Lymphadenopathy Autoimmunity Hepatosplenomegaly Myopathy Muscular hypotonia Generalized hypotonia Alopecia Nail pits Respiratory insufficiency Myelofibrosis Dystrophic toenail Corneal erosion Abnormal toenail morphology Anonychia Hypopigmented skin patches Abnormality of the fingernails Papule Constipation Dysphagia Fragile nails Cheilitis Myelodysplasia Recurrent otitis media Neutropenia Abnormality of the pinna Abnormality of the skeletal system Pancytopenia Carcinoma Inflammatory abnormality of the skin Palmoplantar keratoderma Ichthyosis Urinary retention Ataxia Feeding difficulties Leukocoria Colitis Lymphopenia Decreased antibody level in blood Small for gestational age Postnatal growth retardation Depressivity Cerebellar atrophy Fine, reticulate skin pigmentation Exudative retinopathy Megalocornea Nystagmus Purpura Hyperpigmentation of the skin Broad-based gait Progressive neurologic deterioration Fine hair Cerebral calcification Retinopathy Sparse hair Abnormality of metabolism/homeostasis Hypertonia Toenail dysplasia



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