Details of PQBP1 gene in Homo sapiens
Disease |
Disease |
OMIM id |
Renpenning syndrome 1 (RENS1) [MIM:309500]: A X-linked mental retardation syndrome characterized by mental retardation, microcephaly, short stature, and small testes. The craniofacies tends to be narrow and tall with upslanting palpebral fissures, abnormal nasal configuration, cupped ears, and short philtrum. The nose may appear long or bulbous, with overhanging columella. Less consistent manifestations include ocular colobomas, cardiac malformations, cleft palate, and anal anomalies. Note=The disease is caused by mutations affecting the gene represented in this entry. |
309500 |
Phenotypes
Abdominal situs inversus, Abnormal anatomic location of the heart, Abnormal appendicular skeleton morphology, Abnormal axial skeleton morphology, Abnormal external genitalia, Abnormal facial shape, Abnormal internal genitalia, Abnormality of abdominal situs, Abnormality of body height, Abnormality of calvarial morphology, Abnormality of cardiac atrium, Abnormality of cardiac ventricle, Abnormality of central motor function, Abnormality of connective tissue, Abnormality of facial skeleton, Abnormality of finger, Abnormality of globe size, Abnormality of head and neck, Abnormality of higher mental function, Abnormality of joint mobility, Abnormality of limb bone morphology, Abnormality of male external genitalia, Abnormality of male internal genitalia, Abnormality of mouth size, Abnormality of muscle morphology, Abnormality of phalanx of finger, Abnormality of pyramidal motor function, Abnormality of skeletal morphology, Abnormality of skin adnexa, Abnormality of skull size, Abnormality of the 5th finger, Abnormality of the abdomen, Abnormality of the abdominal organs, Abnormality of the anterior segment of the eye, Abnormality of the anus, Abnormality of the atrial septum, Abnormality of the calvaria, Abnormality of the cardiac septa, Abnormality of the cardiovascular system, Abnormality of the central nervous system, Abnormality of the cerebrum, Abnormality of the chin, Abnormality of the curvature of the vertebral column, Abnormality of the digits, Abnormality of the ear, Abnormality of the external nose, Abnormality of the eye, Abnormality of the eyelid, Abnormality of the face, Abnormality of the foot, Abnormality of the forebrain, Abnormality of the gastrointestinal tract, Abnormality of the genital system, Abnormality of the genitourinary system, Abnormality of the hair, Abnormality of the hand, Abnormality of the hard palate, Abnormality of the head, Abnormality of the heart, Abnormality of the integument, Abnormality of the joints of the upper limbs, Abnormality of the kidney, Abnormality of the lens, Abnormality of the lower limb, Abnormality of the lower urinary tract, Abnormality of the male genitalia, Abnormality of the mandible, Abnormality of the midface, Abnormality of the mouth, Abnormality of the musculature, Abnormality of the nasal bridge, Abnormality of the nasal tip, Abnormality of the nervous system, Abnormality of the nose, Abnormality of the ocular region, Abnormality of the oral cavity, Abnormality of the orbital region, Abnormality of the outer ear, Abnormality of the palate, Abnormality of the palpebral fissures, Abnormality of the penis, Abnormality of the periorbital region, Abnormality of the phalanges of the 5th finger, Abnormality of the philtrum, Abnormality of the pinna, Abnormality of the rib cage, Abnormality of the skeletal system, Abnormality of the skull, Abnormality of the sternum, Abnormality of the testis, Abnormality of the thorax, Abnormality of the upper limb, Abnormality of the upper urinary tract, Abnormality of the urethra, Abnormality of the urinary system, Abnormality of the ventricular septum, Abnormality of the vertebral column, Abnormality of the zygomatic arch, Abnormality of vision, Abnormal joint morphology, Abnormal nasal morphology, Abnormal spatial orientation of the cardiac segments, All, Anal atresia, Aplasia/Hypoplasia affecting bones of the axial skeleton, Aplasia/Hypoplasia affecting the eye, Aplasia/Hypoplasia involving bones of the skull, Aplasia/Hypoplasia involving the central nervous system, Aplasia/Hypoplasia involving the skeleton, Aplasia/Hypoplasia of the cerebrum, Aplasia/Hypoplasia of the mandible, Aplasia/Hypoplasia of the testes, Atrophy/Degeneration affecting the central nervous system, Atrophy/Degeneration affecting the cerebrum, Blindness, Brachycephaly, Bulbous nose, Cataract, Cerebral atrophy, Cleft palate, Clinodactyly of the 5th finger, Cognitive impairment, Coloboma, Conotruncal defect, Contractures of the joints of the upper limbs, Cupped ear, Decreased testicular size, Defect in the atrial septum, Deviation of finger, Deviation of the 5th finger, Deviation of the hand or of fingers of the hand, Dextrocardia, Displacement of the external urethral meatus, Epicanthus, Flexion contracture, Genital hypoplasia, Gonosomal inheritance, Growth abnormality, Growth delay, Hearing abnormality, Hearing impairment, High palate, Hyperreflexia, Hypertonia, Hypoplastic genitalia, Hypospadias, Intellectual disability, Joint contracture of the hand, Limb joint contracture, Macrotia, Malar flattening, Malformation of the heart and great vessels, Mandibular prognathia, Microcephaly, Micrognathia, Microphthalmos, Mode of inheritance, Morphological abnormality of the central nervous system, Narrow foot, Narrow mouth, Narrow palate, Oral cleft, Pectus excavatum, Pes cavus, Phenotypic abnormality, Protruding ear, Radial deviation of finger, Radial deviation of the hand or of fingers of the hand, Renal hypoplasia, Renal hypoplasia/aplasia, Scoliosis, Seizures, Short philtrum, Short stature, Situs inversus totalis, Slanting of the palpebral fissure, Spasticity, Symphalangism affecting the phalanges of the hand, Symphalangism of the 5th finger, Synostosis involving bones of the fingers, Synostosis involving bones of the hand, Synostosis involving bones of the upper limbs, Synostosis involving digits, Synostosis of joints, Tetralogy of Fallot, Upslanted palpebral fissure, Ventricular septal defect, Visual impairment, Wide nasal bridge, X-linked inheritance, X-linked recessive inheritance.
Orthologs in other species |
M. musculus |
D. melonogaster |
C. elegans |
S. purpuratus |
Pqbp1 | PQBP1 | | --- |