Human Phenotype Ontology 
Grandparent Node:
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Phenotypic abnormality (HP:0000118)help
Parent Node:
expand
Abnormality of the endocrine system (HP:0000818)help
..Starting node
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Abnormality of the pineal gland (HP:0012680)help
Term ID: 12680
Name: Abnormality of the pineal gland
Synonym:
Definition: An anomaly of the pineal gland,a small endocrine gland in the brain that produces melatonin.
Comments:
Reference: HP:0012680
Genes and Diseases:
 
       Child Nodes:
........expandAbnormality of pineal morphology (HP:0012681) help
................... HP:0012682 Pineal gland calcification
................... HP:0012683 Pineal cyst
................... HP:0012684 Abnormal pineal volume
................... HP:0012687 Agenesis of pineal gland
........expandAbnormality of pineal physiology (HP:0012688) help
................... HP:0012689 Abnormal pineal melatonin secretion

 Sister Nodes: 
..expandAbnormal circulating hormone concentration (HP:0003117) help
..expandAbnormal endocrine morphology (HP:0031071) help
..expandAbnormal endocrine physiology (HP:0031072) help
..expandAbnormal urine hormone level (HP:0012029) help
..expandAbnormality of endocrine pancreas physiology (HP:0012093) help
..expandAbnormality of renin-angiotensin system (HP:0000847) help
..expandAbnormality of the adrenal glands (HP:0000834) help
..expandAbnormality of the hypothalamus-pituitary axis (HP:0000864) help
..expandAbnormality of the parathyroid gland (HP:0000828) help
..expandAbnormality of the thymus (HP:0000777) help
..expandAbnormality of the thyroid gland (HP:0000820) help
..expandDiabetes insipidus (HP:0000873) help
..expandDiabetes mellitus (HP:0000819) help
..expandNeoplasm of the endocrine system (HP:0100568) help
..expandPuberty and gonadal disorders (HP:0008373) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0012680HP:0012680Abnormality of the pineal gland0ABCB11 CL E G H864742ORPHA:69665Intrahepatic cholestasis of pregnancy146
HP:0012680HP:0012680Abnormality of the pineal gland0ABCB4 CL E G H524445ORPHA:69665Intrahepatic cholestasis of pregnancy111
HP:0012680HP:0012680Abnormality of the pineal gland0ATP8B1 CL E G H52053706ORPHA:69665Intrahepatic cholestasis of pregnancy144
HP:0012680HP:0012680Abnormality of the pineal gland0BPTF CL E G H21863581ORPHA:52996217q24.2 microdeletion syndrome2
HP:0012680HP:0012680Abnormality of the pineal gland0GALNT2 CL E G H25904124OMIM:618885CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0012680HP:0012680Abnormality of the pineal gland0INSR CL E G H36436091ORPHA:769Rabson-Mendenhall syndrome229
HP:0012680HP:0012680Abnormality of the pineal gland0KANSL1 CL E G H28405824565ORPHA:36395817q21.31 microdeletion syndrome283
HP:0012680HP:0012680Abnormality of the pineal gland0KANSL1 CL E G H28405824565ORPHA:363965Koolen-De Vries syndrome due to a point mutation283
HP:0012680HP:0012680Abnormality of the pineal gland0NONO CL E G H48417871OMIM:300967MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS3410
HP:0012680HP:0012680Abnormality of the pineal gland0NR1H4 CL E G H99717967ORPHA:69665Intrahepatic cholestasis of pregnancy14
HP:0012680HP:0012680Abnormality of the pineal gland0PNPLA2 CL E G H5710430802ORPHA:98908Neutral lipid storage myopathy65
HP:0012680HP:0012680Abnormality of the pineal gland0PSMD12 CL E G H57189557ORPHA:52996217q24.2 microdeletion syndrome4
HP:0012680HP:0012680Abnormality of the pineal gland0PSMD12 CL E G H57189557OMIM:617516Stankiewicz-Isidor syndrome4
HP:0012680HP:0012680Abnormality of the pineal gland0VAX1 CL E G H1102312660OMIM:614402Microphthalmia, syndromic 115
HP:0012680HP:0012680Abnormality of the pineal gland0WDR26 CL E G H8023221208ORPHA:513456Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome8
HP:0012680HP:0012688Abnormality of pineal physiology1ABCB11 CL E G H864742ORPHA:69665Intrahepatic cholestasis of pregnancy146
HP:0012680HP:0012688Abnormality of pineal physiology1ABCB4 CL E G H524445ORPHA:69665Intrahepatic cholestasis of pregnancy111
HP:0012680HP:0012688Abnormality of pineal physiology1ATP8B1 CL E G H52053706ORPHA:69665Intrahepatic cholestasis of pregnancy144
HP:0012680HP:0012681Abnormal pineal morphology1BPTF CL E G H21863581ORPHA:52996217q24.2 microdeletion syndrome2
HP:0012680HP:0012681Abnormal pineal morphology1GALNT2 CL E G H25904124OMIM:618885CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0012680HP:0012681Abnormal pineal morphology1INSR CL E G H36436091ORPHA:769Rabson-Mendenhall syndrome229
HP:0012680HP:0012681Abnormal pineal morphology1KANSL1 CL E G H28405824565ORPHA:36395817q21.31 microdeletion syndrome283
HP:0012680HP:0012681Abnormal pineal morphology1KANSL1 CL E G H28405824565ORPHA:363965Koolen-De Vries syndrome due to a point mutation283
HP:0012680HP:0012681Abnormal pineal morphology1NONO CL E G H48417871OMIM:300967MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS3410
HP:0012680HP:0012688Abnormality of pineal physiology1NR1H4 CL E G H99717967ORPHA:69665Intrahepatic cholestasis of pregnancy14
HP:0012680HP:0012681Abnormal pineal morphology1PNPLA2 CL E G H5710430802ORPHA:98908Neutral lipid storage myopathy65
HP:0012680HP:0012681Abnormal pineal morphology1PSMD12 CL E G H57189557ORPHA:52996217q24.2 microdeletion syndrome4
HP:0012680HP:0012681Abnormal pineal morphology1PSMD12 CL E G H57189557OMIM:617516Stankiewicz-Isidor syndrome4
HP:0012680HP:0012681Abnormal pineal morphology1VAX1 CL E G H1102312660OMIM:614402Microphthalmia, syndromic 115
HP:0012680HP:0012681Abnormal pineal morphology1WDR26 CL E G H8023221208ORPHA:513456Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome8
HP:0012680HP:0012682Pineal gland calcification2 CL E G H
HP:0012680HP:0012689Abnormal pineal melatonin secretion2ABCB11 CL E G H864742ORPHA:69665Intrahepatic cholestasis of pregnancyHP:0040283 - Occasional146
HP:0012680HP:0012689Abnormal pineal melatonin secretion2ABCB4 CL E G H524445ORPHA:69665Intrahepatic cholestasis of pregnancyHP:0040283 - Occasional111
HP:0012680HP:0012689Abnormal pineal melatonin secretion2ATP8B1 CL E G H52053706ORPHA:69665Intrahepatic cholestasis of pregnancyHP:0040283 - Occasional144
HP:0012680HP:0012683Pineal cyst2BPTF CL E G H21863581ORPHA:52996217q24.2 microdeletion syndromeHP:0040284 - Very rare2
HP:0012680HP:0012683Pineal cyst2GALNT2 CL E G H25904124OMIM:618885CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0012680HP:0012684Abnormal pineal volume2INSR CL E G H36436091ORPHA:769Rabson-Mendenhall syndrome229
HP:0012680HP:0012683Pineal cyst2KANSL1 CL E G H28405824565ORPHA:36395817q21.31 microdeletion syndromeHP:0040283 - Occasional283
HP:0012680HP:0012683Pineal cyst2KANSL1 CL E G H28405824565ORPHA:363965Koolen-De Vries syndrome due to a point mutationHP:0040283 - Occasional283
HP:0012680HP:0012683Pineal cyst2NONO CL E G H48417871OMIM:300967MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS3410
HP:0012680HP:0012689Abnormal pineal melatonin secretion2NR1H4 CL E G H99717967ORPHA:69665Intrahepatic cholestasis of pregnancyHP:0040283 - Occasional14
HP:0012680HP:0012683Pineal cyst2PNPLA2 CL E G H5710430802ORPHA:98908Neutral lipid storage myopathyHP:0040284 - Very rare65
HP:0012680HP:0012683Pineal cyst2PSMD12 CL E G H57189557ORPHA:52996217q24.2 microdeletion syndromeHP:0040284 - Very rare4
HP:0012680HP:0012683Pineal cyst2PSMD12 CL E G H57189557OMIM:617516Stankiewicz-Isidor syndrome4
HP:0012680HP:0012687Agenesis of pineal gland2VAX1 CL E G H1102312660OMIM:614402Microphthalmia, syndromic 11.5
HP:0012680HP:0012683Pineal cyst2WDR26 CL E G H8023221208ORPHA:513456Intellectual disability-seizures-abnormal gait-facial dysmorphism syndromeHP:0040283 - Occasional8
HP:0012680HP:0012685Decreased pineal volume3 CL E G H
HP:0012680HP:0012686Increased pineal volume3INSR CL E G H36436091ORPHA:769Rabson-Mendenhall syndromeHP:0040283 - Occasional229


Genes (13) :ABCB11 ABCB4 ATP8B1 BPTF GALNT2 INSR KANSL1 NONO NR1H4 PNPLA2 PSMD12 VAX1 WDR26

Diseases (11) :ORPHA:69665 ORPHA:529962 OMIM:618885 ORPHA:769 ORPHA:363958 ORPHA:363965 OMIM:300967 ORPHA:98908 OMIM:617516 OMIM:614402 ORPHA:513456
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.