Achondrogenesis type 1B by pc10201


									Achondrogenesis type 1B
From Wikipedia, the free encyclopedia

Achondrogenesis, type 1B is characterized by extremely short limbs, a narrow
chest, and a prominent, rounded abdomen. The fingers and toes are short and                               Achondrogenesis type 1B
the feet may be rotated inward. Affected infants frequently have a soft out-                             Classification and external resources
pouching around the belly-button (an umbilical hernia) or near the groin (an                        ICD-10                     Q77.0
inguinal hernia).                                                                                   OMIM                       600972
Achondrogenesis, type 1B is a rare genetic disorder; its incidence is unknown.         DiseasesDB           33350
Achondrogenesis, type 1B is the most severe condition in a spectrum of skeletal
disorders caused by mutations in the SLC26A2 gene. This gene provides instructions for making a protein that is essential for
the normal development of cartilage and for its conversion to bone. Mutations in the SLC26A2 gene disrupt the structure of
developing cartilage, preventing bones from forming properly and resulting in the skeletal problems characteristic of
achondrogenesis, type 1B.
Achondrogenesis, type 1B is inherited in an autosomal recessive pattern, which means two copies of the gene in each cell
are altered. Most often, the parents of an individual with an autosomal recessive disorder are carriers of one copy of the
altered gene but do not show signs and symptoms of the disorder.

See also
      Diastrophic dysplasia

External links
      GeneReviews/NCBI/NIH/UW entry on Achondrogenesis Type 1B

This article incorporates public domain text from The U.S. National Library of Medicine

  V   · T· E·                                       Osteochondrodysplasia (Q77–Q78, 756.4–756.5 )
                                    Diaphysis   Camurati-Engelmann disease

                                                Metaphyseal dysplasia · Jansen's metaphyseal chondrodysplasia ·
                                                Schmid metaphyseal chondrodysplasia
         Osteodysplasia/                        Spondyloepiphyseal dysplasia congenita · Multiple epiphyseal dysplasia ·
          osteodystrophy                        Otospondylomegaepiphyseal dysplasia

                               Osteosclerosis   Raine syndrome · Osteopoikilosis · Osteopetrosis

                                                FLNB (Boomerang dysplasia) · Opsismodysplasia · Polyostotic fibrous dysplasia
                                                (McCune-Albright syndrome)
                                       Osteochondroma      osteochondromatosis (Hereditary multiple exostoses)

                               Chondroma/enchondroma       enchondromatosis (Ollier disease, Maffucci syndrome)

                                                           FGFR2: Antley-Bixler syndrome
                                  Growth factor receptor
                                                           FGFR3: Achondroplasia (Hypochondroplasia) · Thanatophoric dysplasia
                               COL2A1 collagen disease     Achondrogenesis (type 2) · Hypochondrogenesis
  (including dwarfism)                                     Achondrogenesis (type 1B) · Recessive multiple epiphyseal dysplasia ·
                               SLC26A2 sulfation defect
                                                           Atelosteogenesis, type II · Diastrophic dysplasia

                              Chondrodysplasia punctata    Rhizomelic chondrodysplasia punctata · Conradi-Hünermann syndrome

                                                           Fibrochondrogenesis · Short rib-polydactyly syndrome
                                         Other dwarfism
                                                           (Majewski's polydactyly syndrome) · Léri-Weill dyschondrosteosis
               M: BON/CAR                        anat(c/f/k/f, u, t/p,             noco/cong/tumr, sysi/epon, injr                proc, drug(M5)

 V   · T· E·                                          Genetic disorder, membrane: Solute carrier disorders
               SLC1A3 (Episodic ataxia 6) · SLC2A1 (De Vivo disease) · SLC2A5 (Fructose malabsorption) · SLC2A10 (Arterial tortuosity syndrome) ·
               SLC3A1 (Cystinuria) · SLC4A1 (Hereditary spherocytosis 4/Hereditary elliptocytosis 4) · SLC4A11
     1-10      (Congenital endothelial dystrophy type 2, Fuchs' dystrophy 4) · SLC5A1 (Glucose-galactose malabsorption) · SLC5A2
               (Renal glycosuria) · SLC5A5 (Thyroid dyshormonogenesis type 1) · SLC6A19 (Hartnup disease) · SLC7A7
               (Lysinuric protein intolerance) · SLC7A9 (Cystinuria)
               SLC11A1 (Crohn's disease) · SLC12A3 (Gitelman syndrome) · SLC16A1 (HHF7) · SLC16A2 (Allan–Herndon–Dudley syndrome ) ·
               SLC17A5 (Salla disease) · SLC17A8 (DFNA25)
               SLC26A2 (Multiple epiphyseal dysplasia 4, Achondrogenesis type 1B, Recessive multiple epiphyseal dysplasia,
 21-40         Atelosteogenesis, type II, Diastrophic dysplasia) · SLC26A4 (Pendred syndrome) · SLC35C1 (CDOG 2C) · SLC39A4
               (Acrodermatitis enteropathica) · SLC40A1 (African iron overload)

                                                                see also solute carrier family
      B structural (perx, skel, cili, mito, nucl, sclr) · DNA/RNA/protein synthesis (drep, trfc, tscr, tltn) · membrane (icha, slcr, atpa, abct, othr) ·
                                                              transduction (iter, csrc, itra), trfk

via Achondrogenesis type 1B

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