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93 Possible Causes for Hypoplastic Middle and Distal Phalanges, Mutation in the EIF2AK3 Gene, Onset of Renal Dysfunction in Early Childhood

  • Wolcott-Rallison Syndrome

    Initially, patients with neonatal or early-childhood onset diabetes are possible candidates for having Wolcott–Rallison syndrome.[en.wikipedia.org] Mutations in the EIF2AK3 gene have been identified in patients with Wolcott-Rallison syndrome - a rare autosomal recessive disorder associated with permanent neonatal insulin-dependent[ncbi.nlm.nih.gov] Diagnosis Initially, patients with neonatal or early-childhood onset diabetes are possible candidates for having Wolcott–Rallison syndrome. [1] The other symptoms include[wikiwand.com]

  • Cerebellotrigeminal Dermal Dysplasia

    A syndrome of brachydactyly (absence of some middle or distal phalanges), aplastic or hypoplastic nails, symphalangism (ankylois of proximal interphalangeal joints), synostosis[ihop-net.org] WRS is caused by mutations in the gene encoding eukaryotic translation initiation factor 2a-kinase (EIF2AK3), an ER transmembrane protein, which plays a key role in translation[docksci.com]

    Missing: Onset of Renal Dysfunction in Early Childhood
  • Hypoaldosteronism

    A homozygous mutation in the EIF2AK3 gene confirmed the clinical diagnosis of Wolcott-Rallison syndrome. She was euthyroid.[ncbi.nlm.nih.gov] A homozygous mutation in EIF2AK3 gene confirmed the clinical diagnosis of WRS. She was euthyroid on L -thyroxine therapy.[abstracts.eurospe.org]

    Missing: Hypoplastic Middle and Distal Phalanges Onset of Renal Dysfunction in Early Childhood
  • Hand-Foot-Genital Syndrome

    The middle phalanges may be hypoplastic, and pseudoepiphyses may be present.[link.springer.com] […] metatarsal; Hypoplastic distal and middle phalanges; Fused cuneiforms MOLECULAR BASIS: Caused by mutation in the homeobox A13 gene (HOXA13, 142959 .0001) Contributors: Kelly[genome.jp] Occasionally, symphalangism of the middle and distal phalanges of the 2nd, 3rd, 4th, or 5th toes is seen. There is delayed carpal or tarsal maturation.[link.springer.com]

    Missing: Mutation in the EIF2AK3 Gene Onset of Renal Dysfunction in Early Childhood
  • Cooks Syndrome

    We present a case and discussion of a patient with congenital anonychia, absent distal phalanges, and rudimentary hypoplastic middle phalanges and brachydactyly, consistent[ncbi.nlm.nih.gov] Keywords SOX9 Gene Distal Phalange Middle Phalanx Partial Conversion Distal Element These keywords were added by machine and not by the authors.[link.springer.com] When anonychia is associated with absence of distal phalanges, a diagnosis of Cooks syndrome must be considered.[ncbi.nlm.nih.gov]

    Missing: Mutation in the EIF2AK3 Gene Onset of Renal Dysfunction in Early Childhood
  • DEND Syndrome

    NEUROD1, IER3IP1, NEUROG3, NKX2-2 ), recessively inherited mutations in the EIF2AK3 gene, which cause Wolcott Rallison Syndrome, are the most common cause of PNDM in consanguineous[diapedia.org] NEUROD1, IER3IP1, MNX1, NEUROG3, NKX2-2, RFX6, GLIS3, PTF1A, PDX1 ), recessively inherited mutations in the EIF2AK3 gene, which cause Wolcott-Rallison syndrome, are the most[diapedia.org] Other rare causes of NDM include mutations in genes encoding transporters such as glucose transporter (GLUT)2 and thiamine transporter (see Table 1 ).[dovepress.com]

    Missing: Hypoplastic Middle and Distal Phalanges Onset of Renal Dysfunction in Early Childhood
  • Dehydration

    Fifth middle phalanges are absent, and fifth proximal and distal phalanges are hypoplastic. Figure 3.[ahajournals.org]

    Missing: Mutation in the EIF2AK3 Gene Onset of Renal Dysfunction in Early Childhood
  • Double Outlet Right Ventricle

    Genetic examination showed classic mutations in the EIF2AK3 gene - eukaryotic translation initiation factor 2α kinase 3.[ncbi.nlm.nih.gov]

    Missing: Hypoplastic Middle and Distal Phalanges Onset of Renal Dysfunction in Early Childhood
  • Autosomal Recessive Deafness 42

    […] and hypoplastic distal phalanges (Fig. 2 B), cone-shaped epiphyses of the middle and distal phalanges, the classical wide and slanted proximal tibia metaphyses and the left[karger.com] Plain radiographs revealed postaxial hexadactyly without fusion of metacarpals or fingers (Fig. 2 A), distalward shortening of the tubular bones with short broad middle phalanges[karger.com]

    Missing: Mutation in the EIF2AK3 Gene Onset of Renal Dysfunction in Early Childhood
  • Distal Symphalangism

    Distal and middle phalanges of fingers and toes 2-5 were either aplastic/hypoplastic or fused between the corresponding digits.[ncbi.nlm.nih.gov] Short Middle Phalanx) D-124 Congenital Syndromes with One or More Short Middle Phalanges (other than Fifth Finger) D-125-1 Generalized Short Distal Phalanges of the Hand[gamuts.isradiology.org] The mother's hands were less severely affected; the middle and distal phalanges of her hands were malformed and fused.[ncbi.nlm.nih.gov]

    Missing: Mutation in the EIF2AK3 Gene Onset of Renal Dysfunction in Early Childhood