Anemia, and Dry skin

Diseases related with Anemia and Dry skin

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


Top matches:

Medium 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

Medium match TANGIER DISEASE


Tangier disease (TD) is a rare lipoprotein metabolism disorder characterized biochemically by an almost complete absence of plasma high-density lipoproteins (HDL), and clinically by liver, spleen, lymph node and tonsil enlargement along with peripheral neuropathy in children and adolescents, and, occasionally, cardiovascular disease in adults.

TANGIER DISEASE Is also known as defective adenosine triphosphate-binding cassette transporter a1|analphalipoproteinemia|atp-binding cassette transporter a1 deficiency

Related symptoms:

  • Anemia
  • Thrombocytopenia
  • Abdominal pain
  • Hepatosplenomegaly
  • Distal muscle weakness


SOURCES: ORPHANET MENDELIAN

More info about TANGIER DISEASE

Medium match BONE MARROW FAILURE SYNDROME 4; BMFS4


BMFS4 is an autosomal recessive disorder characterized by early-onset anemia, leukopenia, and decreased B cells, resulting in the necessity for red cell transfusion and sometimes causing an increased susceptibility to infection. Some patients may have thrombocytopenia or variable additional nonhematologic features, such as facial dysmorphism, skeletal anomalies, and mild developmental delay. Bone marrow transplantation is curative (summary by Bahrami et al., 2017).For a discussion of genetic heterogeneity of BMFS, see BMFS1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about BONE MARROW FAILURE SYNDROME 4; BMFS4

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Other less relevant matches:

Medium 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

Medium match OMENN SYNDROME


Omenn syndrome (OS) is an inflammatory condition characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly, associated with severe combined immunodeficiency (SCID; see this term).

OMENN SYNDROME Is also known as combined immunodeficiency with hypereosinophilia|reticuloendotheliosis, familial, with eosinophilia|severe combined immunodeficiency with hypereosinophilia

Related symptoms:

  • Failure to thrive
  • Anemia
  • Hepatomegaly
  • Fever
  • Edema


SOURCES: ORPHANET OMIM MENDELIAN

More info about OMENN SYNDROME

Medium match HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6; CHNG6


Related symptoms:

  • Intellectual disability
  • Short stature
  • Growth delay
  • Hypertelorism
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6; CHNG6

Medium match XFE PROGEROID SYNDROME; XFEPS


XFE PROGEROID SYNDROME; XFEPS Is also known as xpf-ercc1 progeroid syndrome

Related symptoms:

  • Hearing impairment
  • Microcephaly
  • Scoliosis
  • Ataxia
  • Neoplasm


SOURCES: MESH OMIM MENDELIAN

More info about XFE PROGEROID SYNDROME; XFEPS

Medium match DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3; DKCA3


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

Medium match BLAU SYNDROME


Blau syndrome (BS) is a rare systemic inflammatory disease characterized by early onset granulomatous arthritis, uveitis and skin rash. BS now refers to both the familial and sporadic (formerly early-onset sarcoidosis) form of the same disease. The proposed term pediatric granulomatous arthritis is currently questioned since it fails to represent the systemic nature of the disease.

Related symptoms:

  • Cataract
  • Anemia
  • Hypertension
  • Fever
  • Splenomegaly


SOURCES: ORPHANET MENDELIAN

More info about BLAU SYNDROME

Medium match AICARDI-GOUTIÈRES SYNDROME


Aicardi-Goutières syndrome (AGS) is an inherited, subacute encephalopathy characterised by the association of basal ganglia calcification, leukodystrophy and cerebrospinal fluid (CSF) lymphocytosis.

AICARDI-GOUTIÈRES SYNDROME Is also known as encephalopathy with basal ganglia calcification|encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about AICARDI-GOUTIÈRES SYNDROME

Top 5 symptoms//phenotypes associated to Anemia and Dry skin

Symptoms // Phenotype % cases
Growth delay Uncommon - Between 30% and 50% cases
Thrombocytopenia Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases
Skin rash Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Hepatosplenomegaly Cataract Failure to thrive Fever Splenomegaly Papule Global developmental delay Short stature Lymphadenopathy Diarrhea Hypertension Abnormal facial shape Hypothyroidism

Rare Symptoms - Less than 30% cases


Polyarticular arthritis Cerebral calcification Severe short stature Alopecia Increased body weight Retinopathy Intellectual disability Cardiomyopathy Leukopenia Hyperpigmentation of the skin Thyroiditis Edema Lymphoma Photophobia Autoimmunity Scaling skin Chronic diarrhea Ataxia Pneumonia Keratitis Immunodeficiency Inflammatory abnormality of the skin Recurrent infections Erythroderma Glaucoma Abnormal intestine morphology Lymphopenia Autoimmune hemolytic anemia Abnormal lung morphology Nail dystrophy Respiratory tract infection Eczema Hemolytic anemia Intrauterine growth retardation Ichthyosis Neutropenia CSF lymphocytic pleiocytosis Pulmonary hemorrhage Gastrointestinal hemorrhage Nail dysplasia Reticulated skin pigmentation Pancytopenia Phimosis Fine hair Portal hypertension Bone marrow hypocellularity Epiphora Pulmonary fibrosis Premature graying of hair Interstitial pulmonary abnormality Arrhinencephaly Esophageal stricture Aseptic necrosis Oral leukoplakia Aplastic anemia Hodgkin lymphoma Lower limb spasticity Abnormality of skin pigmentation Hypoplasia of dental enamel Visual impairment Optic atrophy Ventriculomegaly Respiratory distress Intellectual disability, mild Renal insufficiency Weight loss Deeply set eye Elevated hepatic transaminase Proteinuria Carious teeth Vertigo Ascites Cutaneous photosensitivity Narrow face Osteopenia Neoplasm of the skin Cachexia Prominent supraorbital ridges High pitched voice Prematurely aged appearance Poor coordination Chilblains Absence of subcutaneous fat Bird-like facies Lack of subcutaneous fatty tissue Cryptorchidism Delayed speech and language development Cerebellar hypoplasia Osteoporosis Visual loss Abnormality of the liver Dyspnea Plagiocephaly Retrobulbar optic neuritis Abnormal inflammatory response Basal ganglia calcification Seizures Generalized hypotonia Pain Spasticity Hemiplegia/hemiparesis Ptosis Flexion contracture Toe walking Leukoencephalopathy Leukodystrophy Clear cell renal cell carcinoma Feeding difficulties Hyperreflexia Hypoplasia of the corpus callosum Hypertonia Cerebral cortical atrophy Muscular hypotonia of the trunk Feeding difficulties in infancy Irritability Delayed myelination Increased serum lactate Intellectual disability, profound Choreoathetosis Large vessel vasculitis Abnormal choroid morphology Arthralgia Xerostomia Facial palsy Erythema Postnatal microcephaly Camptodactyly of finger Stage 5 chronic kidney disease Nephropathy Limitation of joint mobility Pulmonary arterial hypertension Skin ulcer Aortic aneurysm Pericarditis Joint swelling Abnormal cranial nerve morphology Arthropathy Abnormality of the optic nerve Porencephalic cyst Abnormality of the retinal vasculature Synovitis Immune dysregulation Eyelid coloboma Erythema nodosum Posterior uveitis Iridocyclitis Central hypotonia Abnormal salivary gland morphology Thrombocytosis Neoplasm Constipation Scoliosis Hyperkeratosis Abnormality of the skeletal system Midface retrusion Choanal atresia Gingival overgrowth Rhizomelia Recurrent upper respiratory tract infections Neurodevelopmental delay Upper limb undergrowth Agammaglobulinemia Noncompaction cardiomyopathy Respiratory insufficiency Hyperhidrosis Arthritis Orange discoloured tonsils Epidermal acanthosis Atrophic scars Keratoconjunctivitis sicca Uveitis Antinuclear antibody positivity Follicular hyperkeratosis Villous atrophy Corneal neovascularization Increased IgA level Comedo Punctate keratitis Hepatomegaly Low-set ears Impaired thermal sensitivity Hypotrichosis Abdominal pain Blindness Respiratory failure Postnatal growth retardation Bronchiectasis Recurrent skin infections Myelodysplasia Atopic dermatitis Severe intrauterine growth retardation Osteosarcoma Protein-losing enteropathy Folliculitis Erythroid dysplasia Distal muscle weakness Carotid artery stenosis Corneal opacity Peripheral axonal neuropathy Hypertriglyceridemia Left ventricular hypertrophy Ectropion Syringomyelia Facial diplegia Hypocholesterolemia Chronic noninfectious lymphadenopathy Progressive peripheral neuropathy Coronary artery stenosis Accelerated atherosclerosis Pruritus Sepsis Increased T3/T4 ratio Broad-based gait Anteverted nares Dilatation Delayed skeletal maturation Elevated serum creatine phosphokinase Skeletal dysplasia Joint laxity Intellectual disability, moderate Hip dislocation Flat face Delayed eruption of teeth Macroglossia Limb undergrowth Omphalocele Macrocephaly Clumsiness Hoarse voice Congenital hip dislocation Wormian bones Coxa vara Hypercholesterolemia Relative macrocephaly Congenital hypothyroidism Drowsiness Long thorax Thyroid hormone receptor defect No permanent dentition Talipes equinovarus Depressed nasal bridge Nephrotic syndrome Hypoproteinemia Abnormality of the metaphysis Thickened skin Short toe Recurrent bacterial infections Shock Disproportionate short-limb short stature Eosinophilia Leukocytosis Combined immunodeficiency Aplasia/Hypoplasia of the eyebrow Hashimoto thyroiditis Severe combined immunodeficiency Recurrent viral infections Motor delay Hypoplasia of the thymus Cellular immunodeficiency Metaphyseal chondrodysplasia B lymphocytopenia Recurrent fungal infections Protracted diarrhea Generalized lymphadenopathy Abnormal lymphocyte morphology Desquamation of skin soon after birth Severe B lymphocytopenia Hypertelorism Cognitive impairment Deep white matter hypodensities



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