Optic atrophy, and Abdominal distention

Diseases related with Optic atrophy and Abdominal distention

In the following list you will find some of the most common rare diseases related to Optic atrophy and Abdominal distention that can help you solving undiagnosed cases.


Top matches:

High match METACHROMATIC LEUKODYSTROPHY, JUVENILE FORM


METACHROMATIC LEUKODYSTROPHY, JUVENILE FORM Is also known as arylsulfatase a deficiency, juvenile form|mld, juvenile form

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Muscle weakness
  • Spasticity
  • Dysarthria


SOURCES: ORPHANET MENDELIAN

More info about METACHROMATIC LEUKODYSTROPHY, JUVENILE FORM

High match LEUKODYSTROPHY, HYPOMYELINATING, 14; HLD14


Hypomyelinating leukodystrophy-14 is an autosomal recessive neurodevelopmental disorder characterized by hypotonia, almost complete lack of motor or cognitive skills, and absent language development. Additional features include spasticity and intractable seizures; many patients also have perceptive hearing loss and/or blindness. Most patients require tube feeding or ventilatory support, and most die in the first years of life. Brain imaging shows hypomyelination, small caudate and putamen, and cerebral and cerebellar atrophy (summary by Hamilton et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of hypomyelinating leukodystrophy, see {312080}.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about LEUKODYSTROPHY, HYPOMYELINATING, 14; HLD14

High match METACHROMATIC LEUKODYSTROPHY, ADULT FORM


METACHROMATIC LEUKODYSTROPHY, ADULT FORM Is also known as arylsulfatase a deficiency, adult form|mld, adult form

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Muscle weakness
  • Spasticity
  • Dysarthria


SOURCES: ORPHANET MENDELIAN

More info about METACHROMATIC LEUKODYSTROPHY, ADULT FORM

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Other less relevant matches:

High match METACHROMATIC LEUKODYSTROPHY, LATE INFANTILE FORM


The metachromatic leukodystrophies comprise several allelic disorders. Kihara (1982) recognized 5 allelic forms of MLD: late infantile, juvenile, and adult forms, partial cerebroside sulfate deficiency, and pseudoarylsulfatase A deficiency; and 2 nonallelic forms: metachromatic leukodystrophy due to saposin B deficiency (OMIM ) and multiple sulfatase deficiency or juvenile sulfatidosis (OMIM ), a disorder that combines features of a mucopolysaccharidosis with those of metachromatic leukodystrophy.

METACHROMATIC LEUKODYSTROPHY, LATE INFANTILE FORM Is also known as sulfatide lipidosis|arsa deficiency|mld, late infantile form|arylsulfatase a deficiency|cerebroside sulfatase deficiency|metachromatic leukoencephalopathy|arylsulfatase a deficiency, late infantile form|cerebral sclerosis, diffuse, metachromatic form

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about METACHROMATIC LEUKODYSTROPHY, LATE INFANTILE FORM

High match OCULOCEREBROFACIAL SYNDROME, KAUFMAN TYPE


Oculocerebrofacial syndrome, Kaufman type is characterized by psychomotor retardation, microcephaly, upslanting palpebral fissures, eye abnormalities (microcornea, strabismus, myopia, optic atrophy), high-arched palate, preauricular skin tags and micrognathia with respiratory distress. It has been described in about 10 cases. Other anomalies can be present: long thin hands and feet, ambiguous genitalia, hypertelorism, etc. An autosomal recessive mode of inheritance seems most likely.

OCULOCEREBROFACIAL SYNDROME, KAUFMAN TYPE Is also known as mendenhall syndrome|rabson-mendenhall syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about OCULOCEREBROFACIAL SYNDROME, KAUFMAN TYPE

High match HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1; CHNG1


Resistance to thyroid-stimulating hormone (TSH; see {188540}), a hallmark of congenital nongoitrous hypothyroidism, causes increased levels of plasma TSH and low levels of thyroid hormone. Only a subset of patients develop frank hypothyroidism; the remainder are euthyroid and asymptomatic (so-called compensated hypothyroidism) and are usually detected by neonatal screening programs (Paschke and Ludgate, 1997). Genetic Heterogeneity of Congenital Nongoitrous HypothyroidismCHNG2 (OMIM ) is caused by mutation in the PAX8 gene (OMIM ) on chromosome 2q12-q14; CHNG3 (OMIM ) maps to a locus on chromosome 15q25.3; CHNG4 (OMIM ) is caused by mutation in the TSHB gene (OMIM ) on chromosome 1p13; CHNG5 (OMIM ) is caused by mutation in the NKX2-5 gene (OMIM ) on chromosome 5q34; and CHNG6 (OMIM ) is caused by mutation in the THRA gene (OMIM ) on chromosome 17q21.1.

HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1; CHNG1 Is also known as tsh resistance|hypothyroidism, congenital, due to tsh resistance|hypothyroidism, nonautoimmune|rtsh|thyrotropin resistance|hypothyroidism due to unresponsiveness to thyrotropin|thyroid-stimulating hormone, resistance to

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Muscular hypotonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1; CHNG1

High match MUCOPOLYSACCHARIDOSIS TYPE 2, SEVERE FORM


Mucopolysaccharidosis type 2 (MPS2, see this term), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade.

MUCOPOLYSACCHARIDOSIS TYPE 2, SEVERE FORM Is also known as mucopolysaccharidosis type ii, severe form|mps2a|iduronate 2-sulfatase deficiency type a|mucopolysaccharidosis type 2a|hunter syndrome type a|mpsiia|mucopolysaccharidosis type iia

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: ORPHANET MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS TYPE 2, SEVERE FORM

High match ACROCEPHALOPOLYDACTYLOUS DYSPLASIA


Acrocephalopolydactylous dysplasia, or Elejalde syndrome, is a lethal multiple congenital disorder characterized by increased birth weight, globular body with thick skin, organomegaly, and fibrosis in multiple tissues (summary by Phadke et al., 2011).

ACROCEPHALOPOLYDACTYLOUS DYSPLASIA Is also known as elejalde syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ataxia
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about ACROCEPHALOPOLYDACTYLOUS DYSPLASIA

High match D-BIFUNCTIONAL PROTEIN DEFICIENCY


D-bifunctional protein deficiency is a disorder of peroxisomal fatty acid beta-oxidation. See also peroxisomal acyl-CoA oxidase deficiency (OMIM ), caused by mutation in the ACOX1 gene (OMIM ) on chromosome 17q25. The clinical manifestations of these 2 deficiencies are similar to those of disorders of peroxisomal assembly, including X-linked adrenoleukodystrophy (ALD ), Zellweger cerebrohepatorenal syndrome (see {214100}) and neonatal adrenoleukodystrophy (NALD; see {601539}) (Watkins et al., 1995).DBP deficiency has been classified into 3 subtypes depending upon the deficient enzyme activity. Type I is a deficiency of both 2-enoyl-CoA hydratase and 3-hydroxyacyl-CoA dehydrogenase; type II is a deficiency of hydratase activity alone; and type III is a deficiency of dehydrogenase activity alone. Virtually all patients with types I, II, and III have a severe phenotype characterized by infantile-onset of hypotonia, seizures, and abnormal facial features, and most die before age 2 years. McMillan et al. (2012) proposed a type IV deficiency on the basis of less severe features; these patients have a phenotype reminiscent of Perrault syndrome (PRLTS1 ). Pierce et al. (2010) noted that Perrault syndrome and DBP deficiency overlap clinically and suggested that DBP deficiency may be underdiagnosed.

D-BIFUNCTIONAL PROTEIN DEFICIENCY Is also known as peroxisomal bifunctional enzyme deficiency|dbp deficiency|17-beta-hydroxysteroid dehydrogenase iv deficiency|pbfe deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about D-BIFUNCTIONAL PROTEIN DEFICIENCY

High match ACROMESOMELIC DYSPLASIA, GREBE TYPE


Acromesomelic dysplasia, Grebe type is an autosomal recessively inherited form of acromesomelic dysplasia (see this term) characterized by severe dwarfism at birth, abnormalities confined to limbs, severe shortening and deformity of long bones, fusion or absence of carpal and tarsal bones, ball shaped fingers and, occasionally, polydactyly and absent joints. As seen in acromesomelic dysplasia, Hunter-Thomson type and acromesomelic dysplasia, Maroteaux Type (see these terms), facial features and intelligence are normal.

ACROMESOMELIC DYSPLASIA, GREBE TYPE Is also known as fumaric aciduria|chondrodysplasia, grebe type

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about ACROMESOMELIC DYSPLASIA, GREBE TYPE

Top 5 symptoms//phenotypes associated to Optic atrophy and Abdominal distention

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Spasticity Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Optic atrophy and Abdominal distention. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Strabismus Muscular hypotonia Dystonia Hearing impairment Decreased nerve conduction velocity Developmental regression Leukodystrophy Low-set ears Ascites Anteverted nares Feeding difficulties Micrognathia Microcephaly Depressed nasal bridge Edema Macrocephaly Upslanted palpebral fissure Frontal bossing Abnormality of proteoglycan metabolism High palate Abnormal facial shape Failure to thrive Hepatomegaly Nystagmus Short stature Protuberant abdomen Polyhydramnios Epicanthus Abnormal social behavior Punctate periventricular T2 hyperintense foci Feeding difficulties in infancy Muscle weakness Dysarthria Hyporeflexia Babinski sign Reduced visual acuity Urinary incontinence Bilateral sensorineural hearing impairment Clumsiness Frequent falls Hallucinations Emotional lability Loss of speech Abnormality of visual evoked potentials Increased CSF protein Delusions Progressive gait ataxia Vegetative state Progressive peripheral neuropathy Cholecystitis EMG: chronic denervation signs Decerebrate rigidity Coarse facial features Abnormality of the face Hypertelorism

Rare Symptoms - Less than 30% cases


Abnormality of the cerebral white matter Short neck Visual impairment Pallor Depressed nasal ridge Dyspnea Peripheral demyelination Brachydactyly Cholestasis Large fontanelles Specific learning disability Neoplasm Myopia Micromelia Respiratory failure Mandibular prognathia Macroglossia Retrognathia Enterocolitis Postaxial hand polydactyly Rigidity Dry skin Behavioral abnormality Cataract Thickened skin Severe global developmental delay Cerebellar hypoplasia Cerebral atrophy Cerebellar atrophy Ventriculomegaly Hypoplasia of the corpus callosum Respiratory insufficiency Depressivity Dementia Growth delay Chorea Abnormality of glycosphingolipid metabolism Schizophrenia Umbilical hernia Joint stiffness Progressive psychomotor deterioration Ataxia Short attention span Intention tremor Polymicrogyria Progressive hearing impairment Muscle stiffness Multicystic kidney dysplasia Hydrops fetalis Hypoplastic colon Hepatic fibrosis Redundant skin Hypoplasia of the small intestine Renal dysplasia Broad neck Polysplenia Rib fusion Cystic renal dysplasia Generalized hyperpigmentation Oxycephaly Subcortical cerebral atrophy Abnormality of the cerebellar vermis Aplasia/Hypoplasia of the macula Cystic hygroma Macular dystrophy Premature graying of hair Pancreatic fibrosis Cerebral cortical hemiatrophy Enlarged kidney Hemivertebrae Lymphangioma Focal seizures, afebril Omphalocele Hyperplasia of the maxilla Urinary glycosaminoglycan excretion Heparan sulfate excretion in urine Morphological abnormality of the central nervous system Obstructive lung disease J-shaped sella turcica Abnormality of the optic disc Hypochromic anemia Short digit Inspiratory stridor Thoracolumbar kyphosis Increased mean corpuscular volume Communicating hydrocephalus Beaking of vertebral bodies Edema of the lower limbs Abnormality of the skull Anisopoikilocytosis Abnormality of mucopolysaccharide metabolism Renal hypoplasia Polydactyly Limb undergrowth Hypopigmentation of the skin Postaxial polydactyly Pulmonary hypoplasia Anal atresia Craniosynostosis Abnormality of the pinna Recurrent respiratory infections Dermatan sulfate excretion in urine Abnormality of cardiovascular system morphology Short nose Tremor Abnormality of nasopharyngeal adenoids Localized skin lesion Dysplastic aortic valve Intervertebral space narrowing Extrapulmonary sequestrum Corpus callosum atrophy Skeletal muscle atrophy Aciduria Lissencephaly Aminoaciduria Hyperbilirubinemia Short toe Bowing of the long bones Status epilepticus Intellectual disability, profound Generalized-onset seizure Metabolic acidosis Disproportionate short-limb short stature Short foot Hepatic failure Lactic acidosis Neurological speech impairment Skeletal dysplasia Acidosis Agenesis of corpus callosum Encephalopathy Hyperammonemia Optic nerve hypoplasia Generalized cerebral atrophy/hypoplasia Short tibia Aplasia of the middle phalanges of the toes Cutaneous leiomyoma Mitochondrial encephalopathy Choroid plexus cyst Aplasia/Hypoplasia involving the metacarpal bones Infantile encephalopathy Psychomotor deterioration Organic aciduria Synostosis of carpal bones Relative macrocephaly Fibular hypoplasia Polycythemia Aplasia/Hypoplasia of the thumb Tarsal synostosis Reduced subcutaneous adipose tissue Abnormality of the coagulation cascade Hypoplasia of the brainstem Sarcoma Ventricular septal defect Calcific stippling Talipes equinovarus Osteopenia Gliosis Renal cyst Hepatic steatosis Talipes Dolichocephaly Abnormality of the liver Elevated hepatic transaminase Neonatal hypotonia High forehead Split hand Pneumonia Delayed skeletal maturation Visual loss Pectus excavatum Hypospadias Dilatation Long philtrum Congestive heart failure Progressive visual loss Heterotopia Fetal ascites Adrenal hypoplasia Renal cortical microcysts Chylous ascites Cerebral hypoplasia Cerebral dysmyelination Bile duct proliferation Distal arthrogryposis Undetectable electroretinogram Aspiration pneumonia Scaphocephaly Pachygyria Primary adrenal insufficiency Cortical dysplasia Thoracic hypoplasia Delayed cranial suture closure Decreased muscle mass Aplasia/Hypoplasia of the cerebellum Hammertoe Aspiration Insomnia Abnormal eyelid morphology Protruding tongue Wide mouth Thin vermilion border Long face Arachnodactyly Smooth philtrum Small for gestational age Short philtrum Blepharophimosis Telecanthus High, narrow palate Hypoglycemia Brachycephaly Abnormality of the dentition Respiratory distress Gallbladder dysfunction Genu recurvatum EMG: neuropathic changes Hirsutism Microcornea Bulbar palsy Precocious puberty Insulin-resistant diabetes mellitus Ovarian neoplasm Flat occiput Absent eyebrow Hyperglycemia Clitoral hypertrophy Lipodystrophy Hyperinsulinemia Sepsis Acanthosis nigricans Narrow face Preauricular skin tag Insulin resistance Hypertrichosis Short palpebral fissure Epidermal acanthosis Microdontia Onion bulb formation Toe walking Long foot CNS hypomyelination Orthostatic hypotension due to autonomic dysfunction Progressive spastic quadriplegia Bulbar signs Bowel incontinence Memory impairment Difficulty walking Peripheral edema Tented upper lip vermilion Pain Progressive microcephaly Cerebral visual impairment Hypsarrhythmia Sloping forehead Full cheeks Absent speech Blindness Neoplasm of the gallbladder Cognitive impairment Personality changes Polyneuropathy Apathy Shock Aganglionic megacolon Spastic tetraplegia Optic disc pallor Brain atrophy Tetraplegia Neurodegeneration Peripheral neuropathy Confusion Unsteady gait Mental deterioration Abnormality of the nervous system Gait ataxia Myopathy Gait disturbance Hyperreflexia Ketoacidosis Abnormality of the optic nerve Pericardial effusion Abnormal pericardium morphology Abnormality of the skeletal system Abnormality of reproductive system physiology Large posterior fontanelle Thyroid dysgenesis Compensated hypothyroidism Angiokeratoma corporis diffusum Thyroid agenesis Ectopic thyroid Inguinal hernia Hoarse cry Increased thyroid-stimulating hormone level Thyroid hypoplasia Primary hypothyroidism Pseudohypoparathyroidism Anterior hypopituitarism Hypothermia Kyphosis Prominent forehead Congenital hypothyroidism Mitral valve prolapse Heart murmur Recurrent upper respiratory tract infections Increased intracranial pressure Tachypnea Mitral regurgitation Recurrent otitis media Pulmonary arterial hypertension Abnormality of the cardiovascular system Hyperactivity Cyanosis Limitation of joint mobility Tachycardia Postnatal growth retardation Aggressive behavior Hepatosplenomegaly Kyphoscoliosis Proptosis Palpebral edema Prolonged neonatal jaundice Thick nail Muscle flaccidity Constipation Arrhythmia Intellectual disability, severe Hypertension Onychauxis Abnormality of upper lip Postprandial hyperglycemia Chorioretinal dystrophy Hypothyroidism Diabetic ketoacidosis Abnormal lip morphology Choroideremia Thin eyebrow Advanced eruption of teeth Long penis Fasting hypoglycemia Hypogonadism Jaundice Abnormality of the thyroid gland Reduced tendon reflexes Tracheoesophageal fistula Intestinal obstruction Growth abnormality Abnormality of vision Goiter Anosmia Oligodontia Abnormality of the hair Anxiety Sinusitis Abnormality of epiphysis morphology Nephrolithiasis Hypotension Sleep disturbance Oral cleft Paresthesia Abnormality of the eye Open operculum



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Ventricular septal defect and Anxiety, related diseases and genetic alterations Dysarthria and Focal seizures, related diseases and genetic alterations Brachydactyly and Intellectual disability, profound, related diseases and genetic alterations Failure to thrive and High forehead, related diseases and genetic alterations Muscle weakness and Intellectual disability, moderate, related diseases and genetic alterations Hypertelorism and Postnatal growth retardation, related diseases and genetic alterations Ataxia and Hyperlordosis, related diseases and genetic alterations

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