Abnormality of the skeletal system, and Schizophrenia

Diseases related with Abnormality of the skeletal system and Schizophrenia

In the following list you will find some of the most common rare diseases related to Abnormality of the skeletal system and Schizophrenia that can help you solving undiagnosed cases.


Top matches:

Low match SCHIZOPHRENIA 18; SCZD18


SCHIZOPHRENIA 18; SCZD18 Is also known as schizophrenia 18 with or without an affective disorder

Related symptoms:

  • Schizophrenia


SOURCES: OMIM MENDELIAN

More info about SCHIZOPHRENIA 18; SCZD18

Low match SCHIZOPHRENIA 4; SCZD4


SCHIZOPHRENIA 4; SCZD4 Is also known as schizophrenia susceptibility locus, chromosome 22q11-related

Related symptoms:

  • Abnormality of metabolism/homeostasis
  • Schizophrenia


SOURCES: OMIM MENDELIAN

More info about SCHIZOPHRENIA 4; SCZD4

Low match SCHIZOPHRENIA 19; SCZD19


SCHIZOPHRENIA 19; SCZD19 Is also known as schizophrenia 19 with or without an affective disorder

Related symptoms:

  • Behavioral abnormality
  • Psychosis
  • Schizophrenia
  • Bipolar affective disorder


SOURCES: OMIM MENDELIAN

More info about SCHIZOPHRENIA 19; SCZD19

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Other less relevant matches:

Low match CHROMOSOME 2P16.3 DELETION SYNDROME


Deletions at 2p16.3 involving exons of NRXN1 are associated with susceptibility to autism, schizophrenia (SCZD17), developmental delay, intellectual disability, and dysmorphic features. The phenotype is highly variable and shows incomplete penetrance (summary by Dabell et al., 2013).For a phenotypic description and a discussion of genetic heterogeneity of schizophrenia, see {181500}.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Delayed speech and language development
  • Abnormality of the skeletal system


SOURCES: OMIM MENDELIAN

More info about CHROMOSOME 2P16.3 DELETION SYNDROME

Low match DRUG METABOLISM, POOR, CYP2D6-RELATED


Related symptoms:

  • Neoplasm
  • Hypertension
  • Abnormality of metabolism/homeostasis
  • Depressivity
  • Hypotension


SOURCES: MESH OMIM MENDELIAN

More info about DRUG METABOLISM, POOR, CYP2D6-RELATED

Low match AUTISM-EPILEPSY SYNDROME DUE TO BRANCHED CHAIN KETOACID DEHYDROGENASE KINASE DEFICIENCY


Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency is a rare disorder of branched-chain amino acid metabolism characterized by childhood-onset epilepsy, autism and intellectual disability with reduced levels of plasma branched chain aminoacids.

AUTISM-EPILEPSY SYNDROME DUE TO BRANCHED CHAIN KETOACID DEHYDROGENASE KINASE DEFICIENCY Is also known as bckdk deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Autism
  • Febrile seizures
  • Schizophrenia


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTISM-EPILEPSY SYNDROME DUE TO BRANCHED CHAIN KETOACID DEHYDROGENASE KINASE DEFICIENCY

Low match SCHIZOPHRENIA 15; SCZD15


SCHIZOPHRENIA 15; SCZD15 Is also known as schizophrenia 15 with or without an affective disorder|schizophrenia susceptibility locus, chromosome 22q13-related

Related symptoms:

  • Intellectual disability
  • Seizures
  • Intellectual disability, mild
  • Depressivity
  • Hyperactivity


SOURCES: OMIM MENDELIAN

More info about SCHIZOPHRENIA 15; SCZD15

Low match MAJOR DEPRESSIVE DISORDER; MDD


MAJOR DEPRESSIVE DISORDER; MDD Is also known as unipolar depression

Related symptoms:

  • Neoplasm
  • Behavioral abnormality
  • Depressivity
  • Anxiety
  • Abnormality of the liver


SOURCES: OMIM MENDELIAN

More info about MAJOR DEPRESSIVE DISORDER; MDD

Low match PARKINSON DISEASE 17; PARK17


Parkinson disease-17 is an autosomal dominant, adult-onset form of the disorder. It is phenotypically similar to idiopathic Parkinson disease (summary by Wider et al., 2008).For a general phenotypic description and a discussion of genetic heterogeneity of Parkinson disease (PD), see {168600}.

Related symptoms:

  • Intellectual disability
  • Tremor
  • Dystonia
  • Hyperhidrosis
  • Rigidity


SOURCES: OMIM MENDELIAN

More info about PARKINSON DISEASE 17; PARK17

Low match MONILETHRIX


Monilethrix is a rare genodermatosis characterized by a hair shaft dysplasia resulting in hypotrichosis.

MONILETHRIX Is also known as moniliform hair syndrome

Related symptoms:

  • Intellectual disability
  • Cataract
  • Cognitive impairment
  • Abnormality of the dentition
  • Hypotrichosis


SOURCES: ORPHANET MENDELIAN

More info about MONILETHRIX

Top 5 symptoms//phenotypes associated to Abnormality of the skeletal system and Schizophrenia

Symptoms // Phenotype % cases
Intellectual disability Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Depressivity Uncommon - Between 30% and 50% cases
Autism Uncommon - Between 30% and 50% cases
Neoplasm Rare - less than 30% cases
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Other less frequent symptoms

Patients with Abnormality of the skeletal system and Schizophrenia. may also develop some of the following symptoms:

Rare Symptoms - Less than 30% cases


Abnormality of metabolism/homeostasis Bipolar affective disorder Psychosis Behavioral abnormality Postural instability Parkinsonism Cataract Memory impairment Bradykinesia Akinesia Resting tremor Lewy bodies Abnormality of the nail Cognitive impairment Abnormality of the dentition Hypotrichosis Fine hair Rigidity Brittle hair Abnormal eyelash morphology Abnormal eyebrow morphology Follicular hyperkeratosis Slow-growing hair Dyskinesia Mania Hyperhidrosis Intellectual disability, mild Global developmental delay Delayed speech and language development Autistic behavior Hypertension Hypotension Febrile seizures Abnormality of branched chain family amino acid metabolism Hyperactivity Dystonia Intellectual disability, moderate Neurological speech impairment Anxiety Abnormality of the liver Stroke Alcoholism Agoraphobia Suicidal ideation Tremor Patchy alopecia



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