Anemia, and Hyperkeratosis

Diseases related with Anemia and Hyperkeratosis

In the following list you will find some of the most common rare diseases related to Anemia and Hyperkeratosis 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 DIAMOND-BLACKFAN ANEMIA 17; DBA17


Related symptoms:

  • Anemia
  • Hyperpigmentation of the skin


SOURCES: OMIM MENDELIAN

More info about DIAMOND-BLACKFAN ANEMIA 17; DBA17

Low match EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE K14


Epidermolysis bullosa simplex, autosomal recessive K14 (EBS-AR KRT14) is a basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized or, less frequently, localized acral blistering.

EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE K14 Is also known as krt14-related autosomal recessive ebs|krt14-related autosomal recessive epidermolysis bullosa simplex|ebs-ar krt14|ebs, autosomal recessive k14

Related symptoms:

  • Growth delay
  • Anemia
  • Carious teeth
  • Ichthyosis
  • Palmoplantar keratoderma


SOURCES: ORPHANET MENDELIAN

More info about EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE K14

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Other less relevant matches:

Low match FAMILIAL KERATOACANTHOMA


Multiple familial keratoacanthoma (KA) of Witten and Zak is a rare a rare inherited skin cancer syndrome and is characterized by the coexistence of features characteristic of both multiple KA, Ferguson Smith type and generalized eruptive keratoacanthoma (see these terms), such as multiple small miliary-type lesions, larger self-healing lesions, and nodulo-ulcerative lesions .Lesions do not have a predilection for the mucosal surfaces. Transmission is autosomal dominant.

FAMILIAL KERATOACANTHOMA Is also known as ferguson-smith-type epithelioma|hereditary keratoacanthoma|multiple keratoacanthoma|ess1, formerly

Related symptoms:

  • Neoplasm
  • Anemia
  • Hyperkeratosis
  • Carcinoma
  • Papule


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about FAMILIAL KERATOACANTHOMA

Low match IRIDA SYNDROME


IRIDA (Iron-refractory iron deficiency anemia) syndrome is a rare autosomal recessive iron metabolism disorder characterized by iron deficiency anemia (hypochromic, microcytic) that is often unresponsive to oral iron intake and partially responsive to parenteral iron treatment.

IRIDA SYNDROME Is also known as anemia, hypochromic microcytic, with defect in iron metabolism|iron-refractory iron deficiency anemia|pseudo-iron-deficiency anemia|iron-handling disorder, hereditary

Related symptoms:

  • Intellectual disability
  • Anemia
  • Peripheral neuropathy
  • Fatigue
  • Hyperkeratosis


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about IRIDA SYNDROME

Low match JUNCTIONAL EPIDERMOLYSIS BULLOSA, GENERALIZED INTERMEDIATE


Generalized non-Herlitz-type junctional epidermolysis bullosa is a form of non-Herlitz-type junctional epidermolysis bullosa (JEB-nH, see this term) characterized by generalized skin blistering, atrophic scarring, nail dystrophy or nail absence, and enamel hypoplasia, with extracutaneous involvement.

JUNCTIONAL EPIDERMOLYSIS BULLOSA, GENERALIZED INTERMEDIATE Is also known as junctional epidermolysis bullosa, disentis type|generalized junctional epidermolysis bullosa, non-herlitz type|gabeb|jeb-nh gen|jeb, generalized intermediate|generalized atrophic benign epidermolysis bullosa|junctional epidermolysis bullosa generalisata m

Related symptoms:

  • Growth delay
  • Anemia
  • Nail dystrophy
  • Abnormality of skin pigmentation
  • Palmoplantar keratoderma


SOURCES: ORPHANET MENDELIAN

More info about JUNCTIONAL EPIDERMOLYSIS BULLOSA, GENERALIZED INTERMEDIATE

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 AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK


Autoinflammation with arthritis and dyskeratosis is characterized by recurrent fever, widespread skin dyskeratosis, arthritis, elevated biologic markers of inflammation, and mild autoimmunity with a high transitional B-cell level (summary by Grandemange et al., 2016).

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Anemia
  • Fever
  • Respiratory insufficiency


SOURCES: OMIM MENDELIAN

More info about AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK

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

Low match BLOOD GROUP, MN; MN


MN antigens reside on GYPA, one of the most abundant red-cell glycoproteins. The M and N antigens are 2 autosomal codominant antigens encoded by the first 5 amino acids of GYPA and include 3 O-linked glycans as part of the epitope. M and N differ at amino acids 1 and 5, where M is ser-ser-thr-thr-gly, and N is leu-ser-thr-thr-glu. M is the ancestral GYPA allele and is common in all human populations and Old World apes. GYPA, glycophorin B (GYPB ), and glycophorin E (GYPE ) are closely linked on chromosome 4q31. 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. Antigens of the Ss blood group (OMIM ) reside on GYPB, and 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 or MNS blood group system. The U antigen refers to a short extracellular sequence in GYPB located near the membrane. 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, MN; MN Is also known as mn blood group

Related symptoms:

  • Neoplasm
  • Anemia
  • Leukemia


SOURCES: OMIM MENDELIAN

More info about BLOOD GROUP, MN; MN

Top 5 symptoms//phenotypes associated to Anemia and Hyperkeratosis

Symptoms // Phenotype % cases
Growth delay Uncommon - Between 30% and 50% cases
Atrophic scars Uncommon - Between 30% and 50% cases
Neoplasm Uncommon - Between 30% and 50% cases
Nail dystrophy Uncommon - Between 30% and 50% cases
Ichthyosis Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Palmoplantar keratoderma Abnormal blistering of the skin Hypoplasia of dental enamel Milia

Rare Symptoms - Less than 30% cases


Abnormality of skin pigmentation Nail dysplasia Chronic diarrhea Palmoplantar hyperkeratosis Failure to thrive Papule Diarrhea Carious teeth Epidermal acanthosis Antinuclear antibody positivity Corneal neovascularization Villous atrophy Autoimmunity Follicular hyperkeratosis Keratoconjunctivitis sicca Uveitis Polyarticular arthritis Thyroiditis Autoimmune hemolytic anemia Keratitis Dry skin Hemolytic anemia Increased IgA level Cardiomyopathy Comedo Leukopenia Reticulated skin pigmentation Ridged fingernail Urethral stricture Toenail dysplasia Esophageal stricture Aplastic anemia Pulmonary infiltrates Aseptic necrosis Premature graying of hair Pulmonary fibrosis Bone marrow hypocellularity Punctate keratitis Hepatic fibrosis Dilated cardiomyopathy Osteoporosis Cerebellar hypoplasia Thrombocytopenia Abnormality of the dentition Photophobia Microcephaly Short stature Global developmental delay Arthritis Skin vesicle Hepatosplenomegaly Adenoma sebaceum Microcytic anemia Abnormal intestine morphology Malabsorption Pallor Fatigue Peripheral neuropathy Intellectual disability Keratoacanthoma Papilloma Reticulocytosis Basal cell carcinoma Neoplasm of the skin Meningitis Skin ulcer Subcutaneous nodule Abnormality of the skin Carcinoma Hyperpigmentation of the skin Iron deficiency anemia Intrahepatic cholestasis Hyperhidrosis Scarring alopecia of scalp Splenomegaly Edema Respiratory insufficiency Fever Inflammatory abnormality of the skin Sepsis Scarring Oral mucosal blisters Aplasia cutis congenita Anisocytosis Sparse body hair Anonychia Elevated hepcidin level Decreased serum iron Hypocupremia Decreased mean corpuscular volume Hypochromic microcytic anemia Poikilocytosis Leukemia



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