Autoimmunity, and Aortic valve stenosis

Medium match VON WILLEBRAND DISEASE TYPE 1

Type 1 von Willebrand disease (type 1 VWD) is a form of VWD (see this term) characterized by a bleeding disorder associated with a partial quantitative plasmatic deficiency of an otherwise structurally and functionally normal Willebrand factor (von Willebrand factor; VWF).

VON WILLEBRAND DISEASE TYPE 1 Is also known as von willebrand disease, type i|vwd, type 1

• Autoimmunity
• Bruising susceptibility
• Gastrointestinal hemorrhage
• Mitral valve prolapse
• Epistaxis

SOURCES: ORPHANET MESH OMIM MENDELIAN

Low match AUTOSOMAL DOMINANT CUTIS LAXA

Autosomal dominant cutis laxa (ADCL) is a connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated in some cases with internal organ involvement.

AUTOSOMAL DOMINANT CUTIS LAXA Is also known as adcl

• Generalized hypotonia
• Hypertelorism
• Feeding difficulties
• Fatigue
• Respiratory distress

SOURCES: OMIM ORPHANET MENDELIAN

Low match BEHÇET DISEASE

Behçet's disease (BD) is a chronic, relapsing, multisystemic vasculitis characterized by mucocutaneous lesions, as well as articular, vascular, ocular and central nervous system manifestations.

BEHÇET DISEASE Is also known as bd|behcet disease

• Seizures
• Ataxia
• Neoplasm
• Pain
• Cataract

SOURCES: OMIM ORPHANET MESH MENDELIAN

Low match COMBINED IMMUNODEFICIENCY DUE TO STK4 DEFICIENCY

Combined immunodeficiency due to STK4 deficiency is a rare, genetic combined T and B cell immunodeficiency characterized by T- and B-cell lymphopenia, hypergammaglobulinemia and intermittent neutropenia. It presents with recurrent opportunistic viral, bacterial and fungal infections involving skin (cutaneous papillomatosis, molluscum contagiosum, skin abscesses, mucocutaneous candidiasis), upper and lower respiratory tract or septicemia. Other clinical features include autoimmune manifestations (autoimmune hemolytic anemia) and congenital heart defects (atrial septal defects, patent foramen ovale, mitral, triscupid and pulmonary valve insufficiency).

COMBINED IMMUNODEFICIENCY DUE TO STK4 DEFICIENCY Is also known as mst1 deficiency|cid due to stk4 deficiency|stk4 deficiency

• Anemia
• Atrial septal defect
• Immunodeficiency
• Lymphadenopathy
• Hemolytic anemia

SOURCES: OMIM ORPHANET MENDELIAN

Low match AORTIC VALVE DISEASE 2; AOVD2

AORTIC VALVE DISEASE 2; AOVD2 Is also known as bicuspid aortic valve|aortic valve stenosis

• Hypertension
• Coarctation of aorta
• Aortic valve stenosis
• Bicuspid aortic valve
• Heart murmur

SOURCES: OMIM MENDELIAN

Low match NOONAN SYNDROME 8; NS8

Noonan syndrome-8 is an autosomal dominant disorder characterized by short stature, distinctive facial features, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. A subset of patients show intellectual disabilities (summary by Aoki et al., 2013).For a phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 (OMIM ).

• Intellectual disability
• Short stature
• Scoliosis
• Hypertelorism
• Failure to thrive

SOURCES: OMIM MENDELIAN

Low match EHLERS-DANLOS SYNDROME, PERIODONTITIS TYPE

Ehlers-Danlos syndromes (EDS) form a heterogeneous group of hereditary connective tissue diseases characterized by joint hyperlaxity, cutaneous hyperelasticity and tissue fragility.

EHLERS-DANLOS SYNDROME, PERIODONTITIS TYPE Is also known as ehlers-danlos syndrome, periodontitis type|ehlers-danlos syndrome, periodontosis type|ehlers-danlos syndrome, type viii|ehlers-danlos syndrome type 8|eds viii|eds8

• Short stature
• Scoliosis
• Neoplasm
• Micrognathia
• Pain

SOURCES: ORPHANET OMIM MENDELIAN

Low match SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADENOSINE DEAMINASE DEFICIENCY

Severe combined immunodeficiency (SCID) due to adenosine deaminase (ADA) deficiency is a form of SCID characterized by profound lymphopenia and very low immunoglobulin levels of all isotypes resulting in severe and recurrent opportunistic infections.

SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADENOSINE DEAMINASE DEFICIENCY Is also known as ada deficiency|ada-scid|scid due to adenosine deaminase deficiency|scid due to ada deficiency|scid due to ada deficiency, early-onset

• Global developmental delay
• Failure to thrive
• Hypertension
• Hepatomegaly
• Abnormality of the skeletal system

SOURCES: MESH ORPHANET OMIM MENDELIAN

Low match SINGLETON-MERTEN SYNDROME 2; SGMRT2

Singleton-Merten syndrome-2 is characterized by variable expression of glaucoma, aortic calcification, and skeletal abnormalities, without dental anomalies (summary by Jang et al., 2015).For a general phenotypic description and discussion of genetic heterogeneity of Singleton-Merten syndrome, see SGMRT1 (OMIM ).

• Short stature
• Generalized hypotonia
• Muscle weakness
• Abnormal facial shape
• Flexion contracture

SOURCES: OMIM MENDELIAN

Low match CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 4; CHTD4

• Ventricular septal defect
• Tetralogy of Fallot
• Coarctation of aorta
• Aortic valve stenosis
• Hypoplastic left heart

SOURCES: OMIM MENDELIAN