Anemia, and Hypopigmentation of the skin

Diseases related with Anemia and Hypopigmentation of the skin

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


Top matches:

Medium 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 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 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

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Other less relevant matches:

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 PORPHYRIA CUTANEA TARDA


Porphyria cutanea tarda (PCT) is characterized by light-sensitive dermatitis and the excretion of large amounts of uroporphyrin in urine (Elder et al., 1980).De Verneuil et al. (1978) and others classified porphyria cutanea tarda, the most common type of porphyria, into 2 types: type I (OMIM ), or 'sporadic' type, associated with approximately 50% level of uroporphyrinogen decarboxylase (UROD) in liver (Elder et al., 1978; Felsher et al., 1982), and type II, or 'familial' type, characterized by 50% deficient activity of the same enzyme in many tissues (Kushner et al., 1976; Elder et al., 1980).PCT type II is an autosomal dominant disorder with low penetrance and constitutes about 20% of cases of PCT. Recognized exacerbating factors of PCT include iron overload, excessive use of alcohol, exposure to polyhalogenated aromatic chemicals, exposure to estrogens, chronic viral hepatitis C, HIV infections, and mutation in the HFE gene (OMIM ) that are responsible for hereditary hemochromatosis (OMIM ) (review by Lambrecht et al., 2007).

PORPHYRIA CUTANEA TARDA Is also known as uroporphyrinogen decarboxylase deficiency|pct|pct, type ii|pct, 'familial' type|urod deficiency|porphyria cutanea tarda, type ii|porphyria, hepatocutaneous type

Related symptoms:

  • Anemia
  • Edema
  • Alopecia
  • Carcinoma
  • Erythema


SOURCES: OMIM ORPHANET MENDELIAN

More info about PORPHYRIA CUTANEA TARDA

Low match SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES


Related symptoms:

  • Global developmental delay
  • Microcephaly
  • Growth delay
  • Abnormal facial shape
  • Anemia


SOURCES: OMIM MENDELIAN

More info about SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES

Low match PIEBALDISM


Piebaldism is a rare congenital pigmentation skin disorder characterized by the presence of hypopigmented and depigmented skin areas (leukoderma) on various parts of the body, preferentially on the forehead, chest, abdomen, upper arms, and lower extremities, that are associated with a white forelock (poliosis), and in some cases with hypopigmented and depigmented eyebrows and eyelashes.

PIEBALDISM Is also known as piebaldism

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Ataxia
  • Neoplasm


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about PIEBALDISM

Low match FANCONI ANEMIA, COMPLEMENTATION GROUP P; FANCP


Fanconi anemia of complementation group P is an autosomal recessive disorder characterized by increased chromosomal instability and progressive bone marrow failure. Some patients have skeletal anomalies (summary by Kim et al., 2011).For a general description and a discussion of genetic heterogeneity of Fanconi anemia (FA), see {227650}.

Related symptoms:

  • Short stature
  • Hearing impairment
  • Microcephaly
  • Growth delay
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about FANCONI ANEMIA, COMPLEMENTATION GROUP P; FANCP

Low match PORPHYRIA, CONGENITAL ERYTHROPOIETIC


The porphyrias are diseases caused by defects in heme synthesis, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver (Gross et al., 2000).Desnick and Astrin (2002) provided a comprehensive review of congenital erythropoietic porphyria pathogenesis and treatment.One patient with a phenotype suggestive of congenital erythropoietic anemia was found to have a mutation in the GATA1 gene ({305371.0010}) that affected UROS expression (see XLTT, {314050}).

PORPHYRIA, CONGENITAL ERYTHROPOIETIC Is also known as cep|uros deficiency|uroporphyrinogen iii synthase deficiency|gunther disease

Related symptoms:

  • Short stature
  • Anemia
  • Splenomegaly
  • Thrombocytopenia
  • Alopecia


SOURCES: OMIM ORPHANET MENDELIAN

More info about PORPHYRIA, CONGENITAL ERYTHROPOIETIC

Low match HERMANSKY-PUDLAK SYNDROME 6; HPS6


Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Nystagmus
  • Strabismus
  • Anemia


SOURCES: OMIM MENDELIAN

More info about HERMANSKY-PUDLAK SYNDROME 6; HPS6

Top 5 symptoms//phenotypes associated to Anemia and Hypopigmentation of the skin

Symptoms // Phenotype % cases
Hypopigmented skin patches Uncommon - Between 30% and 50% cases
Hyperpigmentation of the skin Uncommon - Between 30% and 50% cases
Abnormal blistering of the skin Uncommon - Between 30% and 50% cases
Skin vesicle 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 Hypopigmentation of the skin. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Microcephaly

Rare Symptoms - Less than 30% cases


Global developmental delay Short stature Spotty hypopigmentation Growth delay Atypical scarring of skin Scleroderma Abnormal facial shape Hypertrichosis Cutaneous photosensitivity Albinism Hemolytic anemia Skin rash Carcinoma Alopecia Osteopenia Partial albinism Urethral stricture Neoplasm Dysphagia Carious teeth Abnormality of the fingernails Milia Atrophic scars Abnormal toenail morphology Corneal erosion Cheilitis Esophageal stricture Urinary retention Scarring Thrombocytopenia Hypoplasia of the radius Jaundice Absent eyebrow Cholelithiasis Osteolysis Conjunctivitis Joint contracture of the hand Pancytopenia Short palpebral fissure Blepharophimosis Abnormality of the kidney Cryptorchidism Hepatosplenomegaly Short thumb Cafe-au-lait spot Abnormality of the skeletal system Splenomegaly Squamous cell carcinoma of the tongue Pathologic fracture Pelvic kidney Bulbous nose Vitiligo Absent radius Absent thumb Squamous cell carcinoma Horseshoe kidney Bone marrow hypocellularity Strabismus Reticulocytosis Congenital nystagmus Exotropia Recurrent upper respiratory tract infections Prolonged bleeding time Interstitial pulmonary abnormality Colitis Iron deficiency anemia Hypoplasia of the fovea Abnormal lung morphology Ocular albinism Generalized hypopigmentation Rotary nystagmus Macular hypoplasia Endometriosis Absent foveal reflex Abnormal platelet granules Recurrent urinary tract infections Epistaxis Abnormality of the mouth Pink urine Vertebral compression fractures Extramedullary hematopoiesis Corneal scarring Hypersplenism Loss of eyelashes Red urine Erythrodontia Migraine Nystagmus Headache Hernia Reduced visual acuity Photophobia Anal atresia Bruising susceptibility Micrognathia Synophrys Absent pigmentation of the ventral chest Inflammatory abnormality of the skin Depressed nasal bridge Hyperpigmentation in sun-exposed areas Porphyrinuria Viral hepatitis Facial hypertrichosis Congenital hypoplastic anemia Alcoholism Anemia of inadequate production Onycholysis Hepatocellular carcinoma Fragile skin Cerebral palsy Generalized hirsutism Thin skin Hepatitis Frontal bossing Sudden cardiac death Hepatic steatosis Cirrhosis Abnormality of the liver Erythema Edema Congenital localized absence of skin Dystrophic toenail Anonychia Nail dysplasia Nail dystrophy Papule Constipation Dermal atrophy Brachydactyly Talipes equinovarus Piebaldism Wide nasal bridge Poliosis Abnormality of calvarial morphology White eyebrow White eyelashes White forelock White hair Heterochromia iridis Blue irides Hypopigmentation of hair Macule Abnormality of the ear Neoplasm of the skin Aganglionic megacolon Long philtrum Muscular hypotonia Anteverted nares Ataxia Intellectual disability Anisopoikilocytosis Profound global developmental delay Sparse and thin eyebrow Short distal phalanx of finger Talipes Small for gestational age Sparse hair Telecanthus High forehead Proptosis Severe short stature Recurrent infections Impaired ADP-induced platelet aggregation



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