Carcinoma, and Hemolytic anemia

Medium match IDIOPATHIC CD4 LYMPHOCYTOPENIA

Idiopathic CD4 lymphocytopenia is a rare primary immunodeficiency disorder characterized by persistent CD4 T-cell lymphopenia (less than 300 cells/µL on multiple occasions) not associated with any other underlying primary or secondary immune deficiency. Patients typically present opportunistic infections (with cryptococcal, mycobacterial, candidal, varicella zoster virus infections and progressive multifocal leukoencephalopathy being the most prevalent), malignancies (mainly lymphoproliferative disorders), or autoimmune disorders. Some individuals are asymptomatic and incidentally diagnosed.

IDIOPATHIC CD4 LYMPHOCYTOPENIA Is also known as icl|idiopathic cd4 lymphopenia

• Neoplasm
• Anemia
• Immunodeficiency
• Pneumonia
• Carcinoma

SOURCES: OMIM ORPHANET MENDELIAN

Medium 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

• Anemia
• Edema
• Alopecia
• Carcinoma
• Erythema

SOURCES: OMIM ORPHANET MENDELIAN

Medium match AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME

Autoimmune lymphoproliferative syndrome (ALPS) is a rare, inherited disorder characterized by non-malignant lymphoproliferation, multilineage cytopenias, and a lifelong increased risk of Hodgkin's and non-Hodgkin's lymphoma.

AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME Is also known as alps|autoimmune lymphoproliferative syndrome, type i, autosomal dominant|fas deficiency|canale-smith syndrome

• Neoplasm
• Anemia
• Hepatomegaly
• Edema
• Splenomegaly

SOURCES: OMIM ORPHANET MENDELIAN

Medium match IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 1; HIGM1

HIGM is a rare immunodeficiency characterized by normal or elevated serum IgM levels associated with markedly decreased IgG, IgA, and IgE, resulting in a profound susceptibility to bacterial infections and an increased susceptibility to opportunistic infections. Patients with X-linked HIGM also tend to have neutropenia, as well as a high rate of gastrointestinal and central nervous system infections, often resulting in severe liver disease and/or neurodegeneration (summary by Levy et al., 1997). Genetic Heterogeneity of Immunodeficiency with Hyper-IgMOther forms of HIGM include HIGM2 (OMIM ), which results from mutation in the AICDA gene (OMIM ), HIGM3 (OMIM ), which results from mutation in the CD40 gene (OMIM ), and HIGM5 (OMIM ), which results from mutation in the UNG gene (OMIM ). See also HIGM4 (OMIM ).

IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 1; HIGM1 Is also known as hyper-igm immunodeficiency, x-linked|hyper-igm syndrome 1|ihis|hyper-igm syndrome|xhim|imd3|higm|immunodeficiency 3

• Seizures
• Global developmental delay
• Failure to thrive
• Cognitive impairment
• Anemia

SOURCES: OMIM MENDELIAN

Medium match AUTOIMMUNE ENTEROPATHY AND ENDOCRINOPATHY-SUSCEPTIBILITY TO CHRONIC INFECTIONS SYNDROME

Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome is an extremely rare, autosomal dominant immunological disorder characterized by variable enteropathy, endocrine disorders (e.g. type 1 diabetes mellitus, hypothyroidism), immune dysregulation with pulmonary and blood-borne bacterial infections, and fungal infections (chronic mucocutaneous candidiasis) developing in infancy. Other manifestations include short stature, eczema, hepatosplenomegaly, delayed puberty, and osteoporosis/osteopenia.

AUTOIMMUNE ENTEROPATHY AND ENDOCRINOPATHY-SUSCEPTIBILITY TO CHRONIC INFECTIONS SYNDROME Is also known as candf7|candidiasis, familial, 7|candidiasis, familial chronic mucocutaneous, autosomal dominant

• Global developmental delay
• Short stature
• Growth delay
• Anemia
• Diarrhea

SOURCES: ORPHANET OMIM MENDELIAN

Medium match FAMILIAL KERATOACANTHOMA

Multiple familial keratoacanthoma (KA) of Witten and Zak is a rare a rare inherited skin cancer syndrome and is characterized by the coexistence of features characteristic of both multiple KA, Ferguson Smith type and generalized eruptive keratoacanthoma (see these terms), such as multiple small miliary-type lesions, larger self-healing lesions, and nodulo-ulcerative lesions .Lesions do not have a predilection for the mucosal surfaces. Transmission is autosomal dominant.

FAMILIAL KERATOACANTHOMA Is also known as ferguson-smith-type epithelioma|hereditary keratoacanthoma|multiple keratoacanthoma|ess1, formerly

• Neoplasm
• Anemia
• Hyperkeratosis
• Carcinoma
• Papule

SOURCES: OMIM MESH ORPHANET MENDELIAN

Medium 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 ).

• Global developmental delay
• Microcephaly
• Growth delay
• Neoplasm
• Anemia

SOURCES: OMIM MENDELIAN

Medium match KARYOMEGALIC INTERSTITIAL NEPHRITIS

Karyomegalic interstitial nephritis is a rare, genetic renal disease characterized by slowly progressive, chronic, tubulointerstitial nephritis, leading to end-stage renal disease before the age of 50 years, manifesting with mild proteinuria, glucosuria and, occasionally, urinary sediment abnormalities (mainly hematuria). Mild extrarenal manifestations, such as recurrent upper respiratory tract infections and abnormal liver function tests, may be associated. Renal biopsy reveals severe, chronic, interstitial fibrosis and tubular changes, as well as hallmark karyomegalic tubular epithelial cells which line the proximal and distal tubules and have enlarged, hyperchromatic nuclei.

KARYOMEGALIC INTERSTITIAL NEPHRITIS Is also known as kin|systemic karyomegaly

• Anemia
• Hypertension
• Renal insufficiency
• Recurrent infections
• Pneumonia

SOURCES: OMIM ORPHANET MENDELIAN

Medium match ABETALIPOPROTEINEMIA

Abetalipoproteinemia/ homozygous familial hypobetalipoproteinemia (ABL/HoFHBL) is a severe form of familial hypobetalipoproteinemia (see this term) characterized by permanently low levels (below the 5th percentile) of apolipoprotein B and LDL cholesterol, and by growth delay, malabsorption, hepatomegaly, and neurological and neuromuscular manifestations.

ABETALIPOPROTEINEMIA Is also known as hypobetalipoproteinemia, normotriglyceridemic|fhbl|hypobetalipoproteinemia, familial|acanthocytosis with hypobetalipoproteinemia|homozygous familial hypobetalipoproteinemia|bassen-kornzweig disease

• Global developmental delay
• Ataxia
• Muscular hypotonia
• Anemia
• Visual impairment

SOURCES: ORPHANET OMIM MENDELIAN

Medium match BLUE RUBBER BLEB NEVUS

Blue rubber bleb nevus (BRBNS) is a rare vascular malformation disorder with cutaneous and visceral lesions frequently associated with serious, potentially fatal bleeding and anemia.

BLUE RUBBER BLEB NEVUS Is also known as brbn|bean syndrome

• Growth delay
• Neoplasm
• Pain
• Anemia
• Thrombocytopenia

SOURCES: ORPHANET OMIM MESH MENDELIAN