Autoimmunity, and Syndactyly

Diseases related with Autoimmunity and Syndactyly

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


Top matches:

Low match CENANI-LENZ SYNDROME


Cenani-Lenz syndrome (CLS) is a congenital malformation syndrome that associates a complex syndactyly of the hands with malformations of the forearm bones and similar manifestations in the lower limbs.

CENANI-LENZ SYNDROME Is also known as cenani-lenz syndactyly|cenani syndactyly|syndactyly type 7|syndactyly, type vii|cenani syndactylism

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Nystagmus
  • Micrognathia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CENANI-LENZ SYNDROME

Low match TN POLYAGGLUTINATION SYNDROME; TNPS


Polyagglutination refers to red blood cells that agglutinate upon exposure to almost all human sera, but not to autologous serum or the sera of newborns. The condition becomes apparent during blood typing and cross-matching in the laboratory (summary by Beck, 2000).Tn polyagglutination syndrome is an acquired clonal disorder characterized by the polyagglutination of red blood cells by naturally occurring anti-Tn antibodies following exposure of the Tn antigen on the surface of erythrocytes. Only a subset of red cells express the antigen, which can also be expressed on platelets and leukocytes. This condition may occur in healthy individuals who manifest asymptomatic anemia, leukopenia, or thrombocytopenia; however, there is also an association between the Tn antigen and leukemia or myelodysplastic disorders. The Tn antigen is an incompletely glycosylated membrane glycoprotein with an exposed N-acetylgalactosamine residue. The Tn antigen results from inactivation of C1GALT1C1, which encodes a chaperone required for the correct functioning of T-synthetase (C1GALT1 ), an enzyme essential for the correct biosynthesis of O-glycans. Absence of active T-synthetase results in exposure of GalNAc residues, with a proportion of these residues becoming sialylated and forming a sialyl-Tn antigen (summary by Vainchenker et al., 1985 and Crew et al., 2008).

TN POLYAGGLUTINATION SYNDROME; TNPS Is also known as galactosyltransferase deficiency

Related symptoms:

  • Anemia
  • Thrombocytopenia
  • Autoimmunity
  • Leukemia
  • Hemolytic anemia


SOURCES: MESH OMIM MENDELIAN

More info about TN POLYAGGLUTINATION SYNDROME; TNPS

Low match SYNPOLYDACTYLY TYPE 2


SYNPOLYDACTYLY TYPE 2 Is also known as spd2|spd, debeer type|sd2, debeer type|synpolydactyly, 3/3-prime/4, associated with metacarpal and metatarsal synostoses|sd2b|synpolydactyly, debeer type

Related symptoms:

  • Syndactyly
  • Polydactyly
  • Toe syndactyly
  • Tarsal synostosis
  • Carpal synostosis


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SYNPOLYDACTYLY TYPE 2

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Other less relevant matches:

Low match POSTAXIAL POLYDACTYLY TYPE A


Polydactyly refers to the occurrence of supernumerary digits and is the most frequent of congenital hand and foot deformities. Based on the location of the extra digits, polydactyly can be classified into preaxial, involving the thumb or great toe; postaxial, affecting the fifth digit; and central, involving the 3 central digits. Postaxial polydactyly (PAP) is further subclassified into 2 types: in type A, a well-formed extra digit articulates with the fifth or a sixth metacarpal, whereas in type B, a rudimentary, poorly developed extra digit is present (summary by Umm-e-Kalsoom et al., 2012). Genetic Heterogeneity of Postaxial PolydactylyOther forms of postaxial polydactyly type A include PAPA2 (OMIM ) on chromosome 13q21; PAPA3 (OMIM ) on chromosome 19p13; PAPA4 (OMIM ) on chromosome 7q22; PAPA5 (OMIM ) on chromosome 13q13; PAPA6 (OMIM ), caused by mutation in the ZNF141 gene (OMIM ) on chromosome 4p16; PAPA7 (OMIM ), caused by mutation in the IQCE gene (OMIM ) on chromosome 7p22; and PAPA8 (OMIM ), caused by mutation in the GLI1 gene (OMIM ) on chromosome 12q13.

POSTAXIAL POLYDACTYLY TYPE A Is also known as postaxial polydactyly, type a|papa|polydactyly, postaxial

Related symptoms:

  • Syndactyly
  • Polydactyly
  • Abnormality of the foot
  • Postaxial polydactyly
  • Postaxial hand polydactyly


SOURCES: OMIM ORPHANET MENDELIAN

More info about POSTAXIAL POLYDACTYLY TYPE A

Low match NEVUS COMEDONICUS SYNDROME


Nevus comedonicus (NC) is a rare type of epidermal nevus with predilection for the face and neck area. The condition develops within the first decade of life in most patients. NC is characterized by dilated, plugged follicular ostia containing lamellar keratinaceous material and grouped in a honeycomb pattern; the distribution of lesions may be unilateral, bilateral, linear, interrupted, segmental, or along the lines of Blaschko. NC may be nonpyogenic with an acne-like appearance or associated with the formation of cysts, papules, pustules, and abscesses. Histologically, the lesions are large, grouped, dilated follicular ostia devoid of hair shafts but filled with keratin layers (summary by Tchernev et al., 2013).

Related symptoms:

  • Seizures
  • Microcephaly
  • Scoliosis
  • Cataract
  • Alopecia


SOURCES: OMIM ORPHANET MENDELIAN

More info about NEVUS COMEDONICUS SYNDROME

Low match MENTAL RETARDATION, AUTOSOMAL DOMINANT 24; MRD24


Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Pain
  • Gait disturbance
  • Syndactyly


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 24; MRD24

Low match COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE I; C8D1


Patients with deficiency of C8 suffer from recurrent neisserial infections, predominantly with meningococcus infection of rare serotypes. Most such patients are discovered among those having their first episode of meningitis at ages older than 10 years (Ross and Densen, 1984).Two kinds of inherited C8 deficiency have been reported in man: type I, in which only C8 alpha and C8 gamma are deficient, and type II (OMIM ), in which only C8 beta (C8B ) is deficient (Marcus et al., 1982; Tedesco et al., 1983). The 2 types are clinically indistinguishable (Ross and Densen, 1984).

COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE I; C8D1 Is also known as c8ag deficiency|c8 deficiency, type i|c8 alpha-gamma deficiency

Related symptoms:

  • Meningitis
  • Systemic lupus erythematosus
  • C8 deficiency
  • Recurrent Neisserial infections


SOURCES: OMIM MENDELIAN

More info about COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE I; C8D1

Low match BASAN SYNDROME


Complete congenital absence of dermatoglyphs is a rare syndrome characterized by autosomal dominant inheritance of the lack of ridges on palms and soles, neonatal acral blisters and facial milia, adult traumatic blistering and fissuring, absent or reduced sweating of palms and soles, and contracture of digits. Additional features may include single palmar transverse crease, palmoplantar keratoderma, and nail grooving (summary by Limova et al., 1993).

BASAN SYNDROME Is also known as ectodermal dysplasia, absent dermatoglyphic pattern, changes in nails, and simian crease|adermatoglyphia with congenital facial milia and acral blisters, digital contractures, and nail abnormalities

Related symptoms:

  • Flexion contracture
  • Syndactyly
  • Clinodactyly
  • Hyperhidrosis
  • Hyperkeratosis


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about BASAN SYNDROME

Low match MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO COMPLETE IL12RB1 DEFICIENCY


Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interleukin-12 receptor subunit beta-1 (IL12RB1) deficiency is a genetic variant of MSMD (see this term) characterized by mild bacillus Calmette-Guérin (BCG) infections and recurrent Salmonella infections.

MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO COMPLETE IL12RB1 DEFICIENCY Is also known as mendelian susceptibility to interleukin 12 receptor beta 1 deficiency|il12rb1 deficiency|msmd due to complete il12rb1 deficiency|msmd due to complete interleukin 12 receptor beta 1 deficiency

Related symptoms:

  • Diarrhea
  • Immunodeficiency
  • Recurrent infections
  • Systemic lupus erythematosus
  • Recurrent mycobacterial infections


SOURCES: OMIM ORPHANET MENDELIAN

More info about MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO COMPLETE IL12RB1 DEFICIENCY

Top 5 symptoms//phenotypes associated to Autoimmunity and Syndactyly

Symptoms // Phenotype % cases
Toe syndactyly Uncommon - Between 30% and 50% cases
Systemic lupus erythematosus Uncommon - Between 30% and 50% cases
Scarring Rare - less than 30% cases
Abnormal dermatoglyphics Rare - less than 30% cases
Recurrent infections Rare - less than 30% cases
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Other less frequent symptoms

Patients with Autoimmunity and Syndactyly. may also develop some of the following symptoms:

Rare Symptoms - Less than 30% cases


Epidermal acanthosis Finger syndactyly Papule Abnormality of the foot Cataract Polydactyly Scoliosis Preaxial polydactyly Aggressive behavior Thick lower lip vermilion Mandibular prognathia Sacral dimple Gait disturbance Pain Global developmental delay Tented upper lip vermilion Intellectual disability Comedo Acne Epidermal nevus Nevus flammeus Pustule Hamartoma Spina bifida occulta Spina bifida Abnormality of the hair Abnormal vertebral morphology Nevus Ichthyosis Alopecia Microcephaly Seizures Triphalangeal thumb Poor eye contact Hearing impairment Fair hair Milia Thin skin Thickened skin Hypohidrosis Cutaneous syndactyly Overfolded helix Epiphora Hypermelanotic macule Abnormal blistering of the skin Skin vesicle Aplasia cutis congenita Amniotic constriction ring Cutaneous syndactyly of toes Adermatoglyphia Diarrhea Immunodeficiency Interphalangeal joint contracture of finger Ectodermal dysplasia Mood swings Flexion contracture Broad thumb Meningitis C8 deficiency Recurrent Neisserial infections Thyroiditis Hashimoto thyroiditis Clinodactyly Palmoplantar keratoderma Hyperhidrosis Hyperkeratosis Camptodactyly Skin rash Nail dystrophy Tapered finger Single transverse palmar crease Horizontal eyebrow Carpal synostosis Postaxial hand polydactyly Deeply set eye Abnormality of the genital system Abnormal form of the vertebral bodies Renal hypoplasia Abnormality of the ribs Convex nasal ridge Renal agenesis Hypodontia High, narrow palate Micromelia Congenital cataract Hip dislocation Prominent nasal bridge Short philtrum Protruding ear Retrognathia Congenital hip dislocation Low-set ears Hypertelorism Nystagmus Micrognathia Abnormal facial shape Cleft palate Ptosis Depressed nasal bridge Hypothyroidism Downslanted palpebral fissures Frontal bossing Short nose Malar flattening Prominent forehead Proptosis Short thumb Hemivertebrae Postaxial polydactyly Foot oligodactyly Bilateral renal hypoplasia Crossed fused renal ectopia Synostosis of joints Anemia Thrombocytopenia Leukemia Absent toenail Hemolytic anemia Leukopenia Abnormal erythrocyte morphology Tarsal synostosis Metacarpal synostosis Metatarsal synostosis Absent fingernail Synostosis of carpal bones Narrow palate Radioulnar synostosis Abnormality of dental enamel Renal hypoplasia/aplasia Abnormality of the metacarpal bones Laryngomalacia Hypoplasia of the radius Deep philtrum Elbow dislocation Oligodactyly Ectropion Hypoplasia of the ulna Mixed hearing impairment Absent thumb Abnormality of digit Congenital hypothyroidism Recurrent mycobacterial infections



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