Anemia, and Ichthyosis

Diseases related with Anemia and Ichthyosis

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


Top matches:

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

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 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

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Other less relevant matches:

Low match COMBINED IMMUNODEFICIENCY DUE TO GINS1 DEFICIENCY


Immunodeficiency-55 is an autosomal recessive primary immunodeficiency characterized by intrauterine growth retardation, natural killer (NK) cell deficiency, and chronic neutropenia. Most patients also have postnatal growth retardation. Other clinical manifestations include mild facial dysmorphism, dry or eczematous skin, and recurrent infections with both viruses and bacteria. The disorder appears to result from a defect in DNA replication causing blockade of immune cell differentiation in the bone marrow, particularly affecting NK cells (summary by Cottineau et al., 2017).

COMBINED IMMUNODEFICIENCY DUE TO GINS1 DEFICIENCY Is also known as cid due to gins1 deficiency|combined immunodeficiency with intrauterine growth retardation-natural killer cell deficiency-neutropenia|combined immunodeficiency with intrauterine growth retardation-nk cell deficiency-neutropenia

Related symptoms:

  • Growth delay
  • Abnormal facial shape
  • Anemia
  • Intrauterine growth retardation
  • Blindness


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO GINS1 DEFICIENCY

Low match MCLEOD SYNDROME; MCLDS


Hematologically, McLeod syndrome is characterized by the absence of red blood cell Kx antigen, weak expression of Kell red blood cell antigens, acanthocytosis, and compensated hemolysis. Most carriers of this McLeod blood group phenotype have acanthocytosis and elevated serum creatine kinase levels and are prone to develop a severe neurologic disorder resembling Huntington disease (OMIM ). Onset of neurologic symptoms ranges between 25 and 60 years (mean onset 30-40 years), and penetrance appears to be high. Additional symptoms include generalized seizures, neuromuscular symptoms leading to weakness and atrophy, and cardiomyopathy mainly manifesting with atrial fibrillation, malignant arrhythmias, and dilated cardiomyopathy (summary by Jung et al., 2007).The cooccurrence of McLeod syndrome and chronic granulomatous disease (CGD ) results from a contiguous gene deletion (Francke et al., 1985).

MCLEOD SYNDROME; MCLDS Is also known as mcleod phenotype|neuroacanthocytosis, mcleod type

Related symptoms:

  • Seizures
  • Muscle weakness
  • Cognitive impairment
  • Anemia
  • Peripheral neuropathy


SOURCES: MESH OMIM MENDELIAN

More info about MCLEOD SYNDROME; MCLDS

Low match STORMORKEN-SJAASTAD-LANGSLET SYNDROME


Stormorken-Sjaastad-Langslet syndrome is characterized by thrombocytopathy, asplenia, miosis, muscle fatigue, migraine, dyslexia, and ichthyosis. It has been described in six members of one family. It is transmitted as an autosomal dominant trait.

STORMORKEN-SJAASTAD-LANGSLET SYNDROME Is also known as thrombocytopathy-asplenia-miosis syndrome|york platelet syndrome|thrombocytopathy, asplenia, and miosis|yps|stormorken syndrome

Related symptoms:

  • Short stature
  • Muscle weakness
  • Anemia
  • Fatigue
  • Myopathy


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about STORMORKEN-SJAASTAD-LANGSLET SYNDROME

Low match MUCKLE-WELLS SYNDROME; MWS


Muckle-Wells syndrome (MWS) is characterized by episodic skin rash, arthralgias, and fever associated with late-onset sensorineural deafness and renal amyloidosis (Dode et al., 2002).See also familial cold-induced autoinflammatory syndrome-1 (FCAS1, CAPS1; {120100}), an allelic disorder with overlapping clinical features.

MUCKLE-WELLS SYNDROME; MWS Is also known as caps2|uda syndrome|urticaria-deafness-amyloidosis syndrome|cryopyrin-associated periodic syndrome 2

Related symptoms:

  • Seizures
  • Hearing impairment
  • Sensorineural hearing impairment
  • Pain
  • Anemia


SOURCES: OMIM MENDELIAN

More info about MUCKLE-WELLS SYNDROME; MWS

Low match SRD5A3-CDG


SRD5A3-CDG is a rare, non X-linked congenital disorder of glycosylation due to steroid 5 alpha reductase type 3 deficiency characterized by a highly variable phenotype typically presenting with severe visual impairment, variable ocular anomalies (such as optic nerve hypoplasia/atrophy, iris and optic nerve coloboma, congenital cataract, glaucoma), intellectual disability, cerebellar abnormalities, nystagmus, hypotonia, ataxia, and/or ichthyosiform skin lesions. Other reported manifestations include retinitis pigmentosa, kyphosis, congenital heart defects, hypertrichosis and abnormal coagulation.

SRD5A3-CDG Is also known as cdg1q|coloboma, ocular, with ichthyosis, brain malformations, and endocrine abnormalities|congenital disorder of glycosylation type iq|cdg-iq|congenital disorder of glycosylation type 1q|cdg syndrome type iq|cdg iq|cdgiq

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about SRD5A3-CDG

Low match MASTOCYTOSIS, CUTANEOUS; MASTC


Mastocytosis, or mast cell disease, is a heterogeneous group of clinical disorders characterized by the abnormal accumulation of mast cells in various tissues, especially in the skin and hematopoietic organs. Mastocytosis usually appears in infancy or early adulthood. In most pediatric cases, the disease is limited to the skin, but it can be associated with systemic symptoms due to the release of mediators from mast cells, even when there is no systemic infiltration. It usually has a good prognosis, with substantial improvement or spontaneous resolution before puberty. In rare cases, the disease may remain active through adolescence as a systemic adult mastocytosis. Cutaneous mastocytosis is characterized by macules, papules, nodules, or diffuse infiltration of the skin, often associated with localized hyperpigmentation. Gentle rubbing of the lesions induces histamine release from mechanically activated mast cells, causing local wheals, erythema, and often pruritus, a phenomenon termed the 'Darier sign.' In contrast to childhood-onset mastocytosis, adult-onset mastocytosis often persists for the lifetime of the patient and is also more likely to be a severe and systemic disease involving numerous organs. In some cases, it is associated with a clonal hematologic non-mast-cell lineage disease, such as a myelodysplastic or myeloproliferative disorder. Adult-onset mastocytosis can also lead to the rare mast cell leukemia, which carries a high risk of mortality (summary by Bodemer et al., 2010 and Kambe et al., 2010).

MASTOCYTOSIS, CUTANEOUS; MASTC Is also known as mastocytosis, maculopapular cutaneous|mastocytosis, diffuse cutaneous|urticaria pigmentosa

Related symptoms:

  • Neoplasm
  • Pain
  • Anemia
  • Hypertension
  • Hepatomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about MASTOCYTOSIS, CUTANEOUS; MASTC

Low match MUCKLE-WELLS SYNDROME


Muckle-Wells syndrome (MWS) is an intermediate form of cryopyrin-associated periodic syndrome (CAPS; see this term) and is characterized by recurrent fever (with malaise and chills), recurrent urticaria-like skin rash, sensorineural deafness, general signs of inflammation (eye redness, headaches, arthralgia/myalgia) and potentially life-threatening secondary amyloidosis (AA type).

MUCKLE-WELLS SYNDROME Is also known as neutrophilic urticaria

Related symptoms:

  • Short stature
  • Anemia
  • Hepatomegaly
  • Fever
  • Optic atrophy


SOURCES: ORPHANET MENDELIAN

More info about MUCKLE-WELLS SYNDROME

Top 5 symptoms//phenotypes associated to Anemia and Ichthyosis

Symptoms // Phenotype % cases
Fatigue Uncommon - Between 30% and 50% cases
Myalgia Uncommon - Between 30% and 50% cases
Skin rash Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases
Lymphadenopathy Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Inflammatory abnormality of the skin Splenomegaly Abdominal pain Arthralgia Hyperkeratosis Hepatomegaly Seizures Diarrhea Urticaria Abnormal blistering of the skin Palmoplantar keratoderma Hepatosplenomegaly

Rare Symptoms - Less than 30% cases


Abnormality of the musculature Muscle weakness Myopathy Vasculitis Elevated serum creatine phosphokinase Erythroderma Renal amyloidosis Short stature Headache Thrombocytopenia Abnormality of coagulation Recurrent aphthous stomatitis Hearing impairment Pain Fever Arthritis Progressive sensorineural hearing impairment Elevated erythrocyte sedimentation rate Nephropathy Nephrotic syndrome Eczema Arrhythmia Conjunctivitis Abnormal intestine morphology Carious teeth Hypoplasia of dental enamel Glaucoma Milia Atrophic scars Intellectual disability Peripheral neuropathy Abnormal facial shape Malabsorption Microcytic anemia Coloboma Elevated hepatic transaminase Visual loss Brachycephaly Abnormal heart morphology Abnormal palate morphology Cerebellar atrophy Abnormality of skin pigmentation Abnormality of the genital system Cranial nerve paralysis Polymicrogyria Cerebellar vermis hypoplasia Hypertrichosis Cutis laxa Motor delay Oligodontia Delayed puberty Camptodactyly of finger Optic nerve hypoplasia Depressed nasal bridge Rigors Low-set ears Broad foot Leukocytosis Episcleritis Amyloidosis Episodic fever Abnormality of the mouth Abnormality of the nose Papilledema Microscopic hematuria Chills Nystagmus Cystinuria Band keratopathy Uveitis Restrictive ventilatory defect Anterior pituitary hypoplasia Global developmental delay Generalized hypotonia Hypertelorism Abnormality of the voice Type I transferrin isoform profile Abnormality of the gastric mucosa Reduced antithrombin III activity Acute leukemia Osteolysis Leukopenia Anaphylactic shock Cutaneous mastocytosis Shock Sarcoma Portal hypertension Loss of consciousness Hypermelanotic macule Abnormality of blood and blood-forming tissues Dermatographic urticaria Bone pain Flushing Allergy Generalized osteosclerosis Myeloproliferative disorder Hypersplenism Mastocytosis Gastrointestinal stroma tumor Immunologic hypersensitivity Asthenia Impaired temperature sensation Abnormal eosinophil morphology Bone marrow hypocellularity Chronic leukemia Food intolerance Nausea Hypertension Edema Osteoporosis Pes cavus Weight loss Gastroesophageal reflux Erythema Leukemia Papule Pruritus Nausea and vomiting Cirrhosis Telangiectasia Tachycardia Recurrent fractures Abnormality of metabolism/homeostasis Ascites Sudden cardiac death Macrocephaly Asthma Optic atrophy Gastrointestinal hemorrhage Telangiectasia macularis eruptiva perstans Hypotension Neoplasm Abnormal thrombocyte morphology Meningitis Protein-losing enteropathy Neutropenia Abnormal lung morphology Bronchiectasis Lymphopenia Recurrent skin infections Myelodysplasia Autoimmune hemolytic anemia Atopic dermatitis Severe intrauterine growth retardation Osteosarcoma Folliculitis Dry skin Erythroid dysplasia Cognitive impairment Dysarthria Skeletal muscle atrophy Cardiomyopathy Behavioral abnormality Dystonia Depressivity Areflexia Pneumonia Hemolytic anemia Respiratory tract infection Anxiety Elevated hepcidin level Pallor Iron deficiency anemia Reticulocytosis Intrahepatic cholestasis Anisocytosis Poikilocytosis Hypochromic microcytic anemia Decreased mean corpuscular volume Hypocupremia Decreased serum iron Scarring Postnatal growth retardation Nail dystrophy Sepsis Nail dysplasia Palmoplantar hyperkeratosis Skin vesicle Intrauterine growth retardation Blindness Immunodeficiency Recurrent infections Respiratory failure Hypothyroidism Myoclonus Muscular dystrophy Abnormality of the skin Miosis Prominent nose Hypotelorism Epistaxis Hypocalcemia Purpura Subarachnoid hemorrhage Mitochondrial myopathy Asplenia Dyslexia Stroke-like episode Increased muscle fatiguability Abnormal bleeding Increased mean platelet volume Abnormal platelet morphology Upgaze palsy Congenital miosis Sensorineural hearing impairment Abnormality of the skeletal system Renal insufficiency Stage 5 chronic kidney disease Hematuria Coma Migraine Bruising susceptibility Dilated cardiomyopathy Motor axonal neuropathy Dyskinesia Chorea Generalized-onset seizure Cardiomegaly Atrial fibrillation Aspiration EMG abnormality Obsessive-compulsive behavior Rhabdomyolysis Aspiration pneumonia Acanthocytosis Limb muscle weakness Tics Personality disorder Abetalipoproteinemia Phonic tics Dilatation Severe short stature High forehead Deeply set eye Proximal muscle weakness Stroke Neurological speech impairment Hernia of the abdominal wall



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