Anemia, and Scarring

Diseases related with Anemia and Scarring

In the following list you will find some of the most common rare diseases related to Anemia and Scarring 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 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, TYPE 2; NPHS2


Steroid-resistant nephrotic syndrome type 2 is an autosomal recessive disorder characterized clinically by childhood onset of proteinuria, hypoalbuminemia, hyperlipidemia, and edema. Kidney biopsies show nonspecific histologic changes such as minimal change, focal segmental glomerulosclerosis (FSGS), and diffuse mesangial proliferation. The disorder is resistant to steroid treatment and progresses to end-stage renal failure in the first or second decades (summary by Fuchshuber et al., 1996). Some patients show later onset of the disorder (Tsukaguchi et al., 2002).For a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome and FSGS, see NPHS1 (OMIM ).

NEPHROTIC SYNDROME, TYPE 2; NPHS2 Is also known as nephrotic syndrome, steroid-resistant, autosomal recessive|srn1

Related symptoms:

  • Anemia
  • Edema
  • Renal insufficiency
  • Obesity
  • Proteinuria


SOURCES: OMIM ORPHANET MENDELIAN

More info about NEPHROTIC SYNDROME, TYPE 2; NPHS2

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

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 CONGENITAL ATRANSFERRINEMIA


Congenital atransferrinemia is a very rare hematologic disease caused by a transferrin (TF) deficiency and characterized by microcytic, hypochromic anemia (manifesting with pallor, fatigue and growth retardation) and iron overload, and that can be fatal if left untreated.

CONGENITAL ATRANSFERRINEMIA Is also known as hypotransferrinemia, familial|congenital hypotransferrinemia

Related symptoms:

  • Growth delay
  • Anemia
  • Hepatomegaly
  • Fatigue
  • Congestive heart failure


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CONGENITAL ATRANSFERRINEMIA

Low match PROTOPORPHYRIA, ERYTHROPOIETIC, 1; EPP1


Erythropoietic protoporphyria-1 is an inborn error of porphyrin metabolism caused by decreased activity of the enzyme ferrochelatase, the terminal enzyme of the heme biosynthetic pathway, which catalyzes the insertion of iron into protoporphyrin to form heme. EPP is characterized clinically by photosensitivity to visible light commencing in childhood, and biochemically by elevated red cell protoporphyrin levels (Todd, 1994). Genetic Heterogeneity of Erythropoietic ProtoporphyriaAlso see X-linked erythropoietic protoporphyria (XLEPP ), caused by mutation in the ALAS2 gene (OMIM ) on chromosome Xp11, and EPP2 (OMIM ), caused by mutation in the CLPX gene (OMIM ) on chromosome 15q22.

PROTOPORPHYRIA, ERYTHROPOIETIC, 1; EPP1 Is also known as ferrochelatase deficiency|protoporphyria, erythropoietic|heme synthetase deficiency|erythrohepatic protoporphyria|epp

Related symptoms:

  • Pain
  • Anemia
  • Edema
  • Thrombocytopenia
  • Jaundice


SOURCES: OMIM MENDELIAN

More info about PROTOPORPHYRIA, ERYTHROPOIETIC, 1; EPP1

Low match GENERALIZED DOMINANT DYSTROPHIC EPIDERMOLYSIS BULLOSA


Generalized dominant dystrophic epidermolysis bullosa (DDEB-gen) is a subtype of dystrophic epidermolysis bullosa (DEB, see this term), formerly known as DDEB, Pasini and Cockayne-Touraine types, characterized by generalized blistering, milia formation, atrophic scarring, and dystrophic nails.

GENERALIZED DOMINANT DYSTROPHIC EPIDERMOLYSIS BULLOSA Is also known as autosomal dominant dystrophic epidermolysis bullosa, pasini and cockayne-touraine types|ddeb, pasini and cockayne-touraine types|ddeb, generalized|ddeb-gen

Related symptoms:

  • Anemia
  • Dysphagia
  • Carious teeth
  • Abnormality of the fingernails
  • Hypopigmented skin patches


SOURCES: ORPHANET MENDELIAN

More info about GENERALIZED DOMINANT DYSTROPHIC EPIDERMOLYSIS BULLOSA

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 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 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

Top 5 symptoms//phenotypes associated to Anemia and Scarring

Symptoms // Phenotype % cases
Atrophic scars Common - Between 50% and 80% cases
Milia Common - Between 50% and 80% cases
Carious teeth Uncommon - Between 30% and 50% cases
Abnormal blistering of the skin Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Nail dystrophy Skin vesicle Palmoplantar keratoderma Hypoplasia of dental enamel Esophageal stricture Corneal erosion Dysphagia

Rare Symptoms - Less than 30% cases


Abnormality of the fingernails Abnormality of the liver Cheilitis Hypopigmented skin patches Abnormal toenail morphology Urinary retention Nail dysplasia Urethral stricture Constipation Inflammatory abnormality of the skin Microcytic anemia Anonychia Ichthyosis Aplasia cutis congenita Oral mucosal blisters Edema Hyperlipidemia Scarring alopecia of scalp Dermal atrophy Renal insufficiency Obesity Cholecystitis Acute hepatic failure Cholelithiasis Decreased liver function Cholestasis Hypertriglyceridemia Tetraparesis Cutaneous photosensitivity Eczema Sparse body hair Abnormality of skin pigmentation Hemolytic anemia Hypotrichosis Abnormality of the anus Ankyloglossia Fragile skin Squamous cell carcinoma Abnormality of the hair Delayed puberty Narrow mouth Papule Alopecia Visual loss Feeding difficulties Failure to thrive Neoplasm Congenital localized absence of skin Dystrophic toenail Polyneuropathy Hepatic failure Sleep apnea Hyperkeratosis Fatigue Hepatomegaly Apnea Palmoplantar hyperkeratosis Stage 5 chronic kidney disease Nephrotic syndrome Sepsis Mesangial hypercellularity Recurrent infections Mild proteinuria Steroid-resistant nephrotic syndrome Obstructive sleep apnea Focal segmental glomerulosclerosis Glomerulosclerosis Hypoalbuminemia Chronic kidney disease Congestive heart failure Pneumonia Falls Hypochromic anemia Paresthesia Pruritus Erythema Jaundice Thrombocytopenia Pain Atransferrinemia Hypochromic microcytic anemia Hypothyroidism Abnormality of the pancreas Proteinuria Abnormality of the cardiovascular system Cirrhosis Abnormality of the kidney Pallor Arthritis Mitten deformity



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Downslanted palpebral fissures and Anteverted nares, related diseases and genetic alterations Congestive heart failure and Respiratory distress, related diseases and genetic alterations Wide nasal bridge and Progressive neurologic deterioration, related diseases and genetic alterations Skeletal muscle atrophy and Meningitis, related diseases and genetic alterations Breast carcinoma and Anxiety, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more