Anemia, and Nail dystrophy

Diseases related with Anemia and Nail dystrophy

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


Top matches:

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 NEPHROTIC SYNDROME-DEAFNESS-PRETIBIAL EPIDERMOLYSIS BULLOSA SYNDROME


Nephrotic syndrome-deafness-pretibial epidermolysis bullosa syndrome is a rare, genetic, renal disease characterized by hereditary nephritis leading to nephrotic syndrome and end-stage renal failure associated with sensorineural hearing loss and pretibial skin blistering followed by atrophy. Other reported manifestations include bilateral lacrimal duct stenosis, dystrophic teeth and nails, bilateral cervical ribs, unilateral kidney, distal vaginal agenesis and anemia due to beta-thalassemia minor.

NEPHROTIC SYNDROME-DEAFNESS-PRETIBIAL EPIDERMOLYSIS BULLOSA SYNDROME Is also known as nephrotic syndrome-hearing loss-pretibial epidermolysis bullosa syndrome

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Anemia
  • Proteinuria
  • Nail dystrophy


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about NEPHROTIC SYNDROME-DEAFNESS-PRETIBIAL EPIDERMOLYSIS BULLOSA 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 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

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 RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA, GENERALIZED INTERMEDIATE


Recessive dystrophic epidermolysis bullosa (RDEB)-generalized other, also known as RDEB non-Hallopeau-Siemens type, is a subtype of DEB (see this term) characterized by generalized cutaneous and mucosal blistering that is not associated with severe deformities.

RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA, GENERALIZED INTERMEDIATE Is also known as generalized mitis rdeb|autosomal recessive dystrophic epidermolysis bullosa generalisata mitis|autosomal recessive dystrophic epidermolysis bullosa, generalized other|rdeb, generalized intermediate|rdeb-generalized other|rdeb, non-hallopeau-siemens type|r

Related symptoms:

  • Failure to thrive
  • Anemia
  • Feeding difficulties
  • Dysphagia
  • Visual loss


SOURCES: ORPHANET MENDELIAN

More info about RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA, GENERALIZED INTERMEDIATE

Low 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

Low match STING-ASSOCIATED VASCULOPATHY WITH ONSET IN INFANCY


STING-associated vasculopathy with onset in infancy (SAVI) is a rare, genetic autoinflammatory disorder, type I interferonopathy due to constitutive STING (STimulator of INterferon Genes) activation, characterized by neonatal or infantile onset systemic inflammation and small vessel vasculopathy resulting in severe skin, pulmonary and joint lesions. Patients present with intermittent low-grade fever, recurrent cough and failure to thrive, in association with progressive interstitial lung disease, polyarthritis and violaceous scaling lesions on fingers, toes, nose, cheeks, and ears (which are exacerbated by cold exposure) that often progress to chronic acral ulceration, necrosis and autoamputation.

STING-ASSOCIATED VASCULOPATHY WITH ONSET IN INFANCY Is also known as savi

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Anemia
  • Fever
  • Recurrent respiratory infections


SOURCES: ORPHANET OMIM MENDELIAN

More info about STING-ASSOCIATED VASCULOPATHY WITH ONSET IN INFANCY

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

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

Symptoms // Phenotype % cases
Growth delay Common - Between 50% and 80% cases
Milia Uncommon - Between 30% and 50% cases
Nail dysplasia Uncommon - Between 30% and 50% cases
Carious teeth Uncommon - Between 30% and 50% cases
Atrophic scars Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Esophageal stricture Abnormal blistering of the skin Global developmental delay Cerebellar hypoplasia Scarring Skin vesicle Intrauterine growth retardation Bone marrow hypocellularity Oral leukoplakia

Rare Symptoms - Less than 30% cases


Aplastic anemia Palmoplantar keratoderma Esophageal stenosis Pulmonary fibrosis Dysphagia Microcephaly Failure to thrive Constipation Hypoplasia of dental enamel Corneal erosion Thrombocytopenia Anonychia Leukopenia Abnormality of skin pigmentation Lymphopenia Aplasia cutis congenita Oral mucosal blisters Arthralgia Low-grade fever Antinuclear antibody positivity Myositis Fever Raynaud phenomenon Pustule Thrombocytosis Recurrent respiratory infections Myalgia Elevated erythrocyte sedimentation rate Tachypnea Erythema Joint stiffness Interstitial pulmonary abnormality Increased antibody level in blood Autoimmunity Skin rash Abnormal lung morphology Cutis marmorata Decreased body weight Telangiectasia Follicular hyperplasia Cerebral calcification Malar rash Ridged fingernail Decreased antibody level in blood Small for gestational age Postnatal growth retardation Depressivity Immunodeficiency Diarrhea Cerebellar atrophy Short stature Fine, reticulate skin pigmentation Exudative retinopathy Reticulated skin pigmentation Leukocoria Nail pits Fasciitis Megalocornea Purpura Hyperpigmentation of the skin Broad-based gait Progressive neurologic deterioration Fine hair Impaired thermal sensitivity Retinopathy Sparse hair Abnormality of metabolism/homeostasis Hypertonia Nystagmus Ataxia Orange discoloured tonsils Distal muscle weakness Carotid artery stenosis Sepsis Dystrophic toenail Abnormal toenail morphology Hypopigmented skin patches Abnormality of the fingernails Papule Pancytopenia Carcinoma Abnormality of the dentition Neoplasm Palmoplantar hyperkeratosis Inflammatory abnormality of the skin Ichthyosis Cheilitis Hyperkeratosis Pretibial blistering Reduced beta/alpha synthesis ratio Lacrimal duct stenosis Nephritis Nephropathy Stage 5 chronic kidney disease Proteinuria Sensorineural hearing impairment Hearing impairment Scarring alopecia of scalp Sparse body hair Urinary retention Urethral stricture Accelerated atherosclerosis Hepatosplenomegaly Coronary artery stenosis Progressive peripheral neuropathy Chronic noninfectious lymphadenopathy Hypocholesterolemia Facial diplegia Syringomyelia Ectropion Left ventricular hypertrophy Hypertriglyceridemia Peripheral axonal neuropathy Dry skin Corneal opacity Abdominal pain Congenital localized absence of skin Mitten deformity Abnormality of the anus Ankyloglossia Fragile skin Squamous cell carcinoma Abnormality of the hair Delayed puberty Hypotrichosis Narrow mouth Alopecia Visual loss Feeding difficulties Colitis



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