Failure to thrive, and Type I diabetes mellitus

Diseases related with Failure to thrive and Type I diabetes mellitus

In the following list you will find some of the most common rare diseases related to Failure to thrive and Type I diabetes mellitus that can help you solving undiagnosed cases.


Top matches:

High match PARTIAL PANCREATIC AGENESIS


Partial agenesis of the pancreas is characterized by the congenital absence of a critical mass of pancreatic tissue.

PARTIAL PANCREATIC AGENESIS Is also known as congenital pancreatic agenesis|pancreatic hypoplasia, congenital|pagen|partial agenesis of the pancreas

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Intrauterine growth retardation
  • Diabetes mellitus
  • Malabsorption


SOURCES: ORPHANET OMIM MENDELIAN

More info about PARTIAL PANCREATIC AGENESIS

High match ENTERIC ANENDOCRINOSIS


Enteric anendocrinosis is a very rare genetic gastroenterological disease characterized by severe malabsorptive diarrhea (requiring parenteral nutrition and disappearing at fasting) due to a lack of intestinal enteroendocrine cells. It is associated with early-onset (within the first weeks of life) dehydration, metabolic acidosis and diabetes mellitus (that can develop until late childhood). Patient may display various degrees of pancreatic insufficiency that does not explain diarrhea, as it is not reduced with pancreatic enzyme supplementation. Central hypogonadism (developing in the second decade), as well as an association with celiac disease have been reported.

ENTERIC ANENDOCRINOSIS Is also known as enteric anendocrinosis|congenital malabsorptive diarrhea due to paucity of enteroendocrine cells

Related symptoms:

  • Failure to thrive
  • Vomiting
  • Diarrhea
  • Acidosis
  • Malabsorption


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ENTERIC ANENDOCRINOSIS

High match IMMUNE DYSREGULATION-POLYENDOCRINOPATHY-ENTEROPATHY-X-LINKED SYNDROME


Immunodysregulation - polyendocrinopathy - enteropathy - X-linked (IPEX) syndrome is a severe congenital systemic autoimmune disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections.

IMMUNE DYSREGULATION-POLYENDOCRINOPATHY-ENTEROPATHY-X-LINKED SYNDROME Is also known as enteropathy, autoimmune, with hemolytic anemia and polyendocrinopathy|ipex|autoimmune enteropathy type 1|iddm-secretory diarrhea syndrome|x-linked autoimmunity-allergic dysregulation syndrome|polyendocrinopathy, immune dysfunction, and diarrhea, x-linked|

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Anemia
  • Intrauterine growth retardation
  • Diarrhea


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about IMMUNE DYSREGULATION-POLYENDOCRINOPATHY-ENTEROPATHY-X-LINKED SYNDROME

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Other less relevant matches:

High match SYNDROMIC MULTISYSTEM AUTOIMMUNE DISEASE DUE TO ITCH DEFICIENCY


Syndromic multisystem autoimmune disease due to Itch deficiency is a rare, genetic, systemic autoimmune disease characterized by failure to thrive, global developmental delay, distictive craniofacial dysmorphism (relative macrocephaly, dolichocephaly, frontal bossing, orbital proptosis, flattened midface with a prominent occiput, low, posteriorly rotated ears, micrognatia), hepato- and/or splenomegaly, and multisystemic autoimmune disease involving the lungs, liver, gut and/or thyroid gland.

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Abnormal facial shape
  • Low-set ears


SOURCES: OMIM ORPHANET MENDELIAN

More info about SYNDROMIC MULTISYSTEM AUTOIMMUNE DISEASE DUE TO ITCH DEFICIENCY

High match CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE


CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE Is also known as cystinosis, intermediate

Related symptoms:

  • Short stature
  • Failure to thrive
  • Muscle weakness
  • Visual impairment
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE

High match DIABETES MELLITUS, PERMANENT NEONATAL; PNDM


Neonatal diabetes mellitus (NDM), defined as insulin-requiring hyperglycemia within the first 3 months of life, is a rare entity, with an estimated incidence of 1 in 400,000 neonates (Shield, 2000). In about half of the neonates, diabetes is transient (see {601410}) and resolves at a median age of 3 months, whereas the rest have a permanent insulin-dependent form of diabetes (PNDM). In a significant number of patients with transient neonatal diabetes mellitus, type II diabetes (see {125853}) appears later in life (Arthur et al., 1997). PNDM is distinct from childhood-onset autoimmune diabetes mellitus type I (IDDM ).Massa et al. (2005) noted that the diagnostic time limit for PNDM has changed over the years, ranging from onset within 30 days of birth to 3 months of age. However, as patients with the clinical phenotype caused by mutation in the KCNJ11 gene have been identified with onset up to 6 months of age, Massa et al. (2005) suggested that the term 'permanent diabetes mellitus of infancy' (PDMI) replace PNDM as a more accurate description, and include those who present up to 6 months of age. The authors suggested that the new acronym be linked to the gene product (e.g., GCK-PDMI, KCNJ11-PDMI) to avoid confusion with patients with early-onset, autoimmune type I diabetes.Colombo et al. (2008) proposed that, because individuals with INS gene mutations may present with diabetes well beyond 6 months of age and cannot be distinguished from patients with type 1 diabetes except for the absence of type 1 diabetes autoantibodies, the term PNDM should be replaced with 'monogenic diabetes of infancy (MDI),' a broad definition including any form of diabetes, permanent or transient, with onset during the first years of life and caused by a single gene defect.

DIABETES MELLITUS, PERMANENT NEONATAL; PNDM Is also known as diabetes mellitus, permanent, of infancy|pdmi

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about DIABETES MELLITUS, PERMANENT NEONATAL; PNDM

High match CELIAC DISEASE, SUSCEPTIBILITY TO, 1; CELIAC1


Celiac disease, also known as celiac sprue and gluten-sensitive enteropathy (GSE), is a multifactorial disorder of the small intestine that is influenced by both environmental and genetic factors. It is characterized by malabsorption resulting from inflammatory injury to the mucosa of the small intestine after the ingestion of wheat gluten or related rye and barley proteins (summary by Farrell and Kelly, 2002). Long regarded as gastrointestinal disorder of childhood, the disease is now considered to be a chronic systemic autoimmune disease and is more often diagnosed in adults than in children (Monsuur et al., 2005).For a discussion of genetic heterogeneity of celiac disease, see MAPPING.

CELIAC DISEASE, SUSCEPTIBILITY TO, 1; CELIAC1 Is also known as celiac sprue, susceptibility to, 1|gluten-sensitive enteropathy, susceptibility to, 1

Related symptoms:

  • Seizures
  • Short stature
  • Ataxia
  • Failure to thrive
  • Anemia


SOURCES: OMIM MENDELIAN

More info about CELIAC DISEASE, SUSCEPTIBILITY TO, 1; CELIAC1

High match COMBINED IMMUNODEFICIENCY DUE TO LRBA DEFICIENCY


Common variable immunodeficiency-8 with autoimmunity is an autosomal recessive disorder of immune dysregulation. Affected individuals have early childhood onset of recurrent infections, particularly respiratory infections, and also develop variable autoimmune disorders, including idiopathic thrombocytopenic purpura, autoimmune hemolytic anemia, and inflammatory bowel disease. The presentation and phenotype are highly variable, even within families (summary by Lopez-Herrera et al., 2012 and Alangari et al., 2012). Immunologic findings are also variable and may include decreased B cells, hypogammaglobulinemia, and deficiency of CD4+ T regulatory (Treg) cells (Charbonnier et al., 2015).For a general description and a discussion of genetic heterogeneity of common variable immunodeficiency, see CVID1 (OMIM ).

COMBINED IMMUNODEFICIENCY DUE TO LRBA DEFICIENCY Is also known as cid due to lrba deficiency

Related symptoms:

  • Growth delay
  • Neoplasm
  • Failure to thrive
  • Anemia
  • Diarrhea


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO LRBA DEFICIENCY

High match SHWACHMAN-DIAMOND SYNDROME


Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failure, skeletal dysplasia with short stature, and an increased risk of bone marrow aplasia or leukemic transformation.

SHWACHMAN-DIAMOND SYNDROME Is also known as pancreatic insufficiency and bone marrow dysfunction|shwachman syndrome|shwachman-bodian syndrome|shwachman-diamond syndrome|shwachman-bodian-diamond syndrome|sds|lipomatosis of pancreas, congenital

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Scoliosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about SHWACHMAN-DIAMOND SYNDROME

High match MARINESCO-SJÖGREN SYNDROME


Marinesco-Sjögren syndrome (MSS) belongs to the group of autosomal recessive cerebellar ataxias. Cardinal features of MSS are cerebellar ataxia, congenital cataract, and delayed psychomotor development.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about MARINESCO-SJÖGREN SYNDROME

Top 5 symptoms//phenotypes associated to Failure to thrive and Type I diabetes mellitus

Symptoms // Phenotype % cases
Malabsorption Common - Between 50% and 80% cases
Diabetes mellitus Uncommon - Between 30% and 50% cases
Diarrhea Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases
Vomiting Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Failure to thrive and Type I diabetes mellitus. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Short stature Abnormal intestine morphology Autoimmunity Hypothyroidism Generalized hypotonia Anemia Recurrent infections Global developmental delay Immunodeficiency Chronic diarrhea Intrauterine growth retardation Muscle weakness Inflammatory abnormality of the skin Pancreatic hypoplasia Hyperglycemia Thrombocytopenia Exocrine pancreatic insufficiency Eczema Dehydration Sepsis Seizures

Rare Symptoms - Less than 30% cases


Delayed puberty Ataxia Abnormal facial shape Hepatomegaly Splenomegaly Clinodactyly Respiratory failure Recurrent aphthous stomatitis Asthma Abnormal lung morphology Flexion contracture Chronic lung disease Interstitial pneumonitis Mild global developmental delay IgA deficiency Peripheral neuropathy Gait disturbance Fatigue Myopathy Intellectual disability, mild Small for gestational age Rickets Steatorrhea Pneumonia Polydipsia Elevated hepatic transaminase Lymphoma Ptosis Specific learning disability Abnormality of the skeletal system Arthritis Lymphadenopathy Hemolytic anemia Hepatitis Decreased antibody level in blood Neutropenia Portal hypertension Respiratory tract infection Abnormality of the coagulation cascade Malnutrition Intellectual disability Pancytopenia Scoliosis Pectus carinatum Autoimmune hemolytic anemia Thyroiditis Ketoacidosis Villous atrophy Immune dysregulation Neoplasm Metaphyseal sclerosis Anterior rib cupping Burkitt lymphoma Metaphyseal chondrodysplasia Acute monocytic leukemia Follicular hyperplasia Recurrent viral infections Aplastic anemia Persistence of hemoglobin F Narrow chest Generalized lymphadenopathy Paroxysmal nocturnal hemoglobinuria Proximal femoral metaphyseal irregularity Gastritis Myocardial necrosis Metaphyseal dysostosis IgM deficiency Proximal femoral epiphysiolysis Cor pulmonale Narrow sacroiliac notch Irregular ossification at anterior rib ends Hearing impairment Enlargement of the costochondral junction Delayed skeletal maturation Respiratory distress Osteopenia Ichthyosis Generalized muscle weakness Leukemia Nystagmus Microdontia Apraxia Abnormality of the metaphysis Decreased liver function Short ribs Skeletal dysplasia Bone marrow hypocellularity Nephrocalcinosis Ovoid vertebral bodies Recurrent bacterial infections Coxa vara Leukopenia Myelodysplasia Carious teeth Metaphyseal widening Neonatal respiratory distress Short thorax Multiple lipomas Myeloid leukemia Acute myeloid leukemia Microcephaly Gait ataxia Strabismus Hypergonadotropic hypogonadism Dysphonia Abnormality of the metacarpal bones Infantile muscular hypotonia Sandal gap Coxa valga Muscle stiffness Sensorimotor neuropathy Cubitus valgus Short thumb Limb ataxia Progressive muscle weakness Hypertrichosis Hip dysplasia Short metacarpal Short metatarsal Congenital muscular dystrophy Microcornea Muscle flaccidity Aplasia/Hypoplasia involving the skeletal musculature Abnormal lactate dehydrogenase activity Cerebellar cortical atrophy Metatarsus valgus Abnormal levels of creatine kinase in blood Abnormality of the cerebellar vermis Muscle fiber necrosis Myopathic facies Autophagic vacuoles Avascular necrosis of the capital femoral epiphysis Abnormality of finger Centrally nucleated skeletal muscle fibers Rimmed vacuoles External genital hypoplasia Progressive cerebellar ataxia Dyskinesia Muscular hypotonia Optic atrophy Areflexia Cerebral atrophy Kyphosis Hypertonia Cerebellar atrophy Intellectual disability, severe Skeletal muscle atrophy Elevated serum creatine phosphokinase Brachydactyly Dysarthria Epicanthus High palate Spasticity Cataract Hyporeflexia Cerebellar hypoplasia Short palm Intellectual disability, moderate Smooth philtrum Synophrys Congenital cataract Muscular dystrophy Hip dislocation Neurological speech impairment Rigidity Severe short stature Deeply set eye Pes planus Kyphoscoliosis Brain neoplasm Cerebral cortical atrophy Hypogonadism Verrucae Macrocytic anemia Clubbing of fingers Cranial nerve paralysis Renal insufficiency Headache Photophobia Proteinuria Retinopathy Abnormal pyramidal sign Corneal opacity Stage 5 chronic kidney disease Nephropathy Aciduria Pigmentary retinopathy Stereotypy Aminoaciduria Growth abnormality Visual impairment Hypokalemia Hypophosphatemia Dysphasia Renal tubular dysfunction Corneal crystals Nephrogenic diabetes insipidus Retinal pigment epithelial mottling Elevated intracellular cystine Motor delay Anteverted nares Short nose Long philtrum Abnormality of the nervous system Fever Prominent occiput Confusion Cardiac arrest Type II diabetes mellitus Increased body weight Glucose intolerance Maternal diabetes Maturity-onset diabetes of the young Neonatal insulin-dependent diabetes mellitus Acidosis Metabolic acidosis Decreased body weight Cholestatic liver disease Hyperchloremic metabolic acidosis Abnormal cellular phenotype Nephrotic syndrome Eosinophilia Relative macrocephaly Nephritis Erythroderma Abnormality of the thyroid gland Ileus Intractable diarrhea Secretory diarrhea Low-set ears Macrocephaly Frontal bossing Posteriorly rotated ears Proptosis Camptodactyly Dolichocephaly Short chin Muscular hypotonia of the trunk Downturned corners of mouth Autoimmune thrombocytopenia Congestive heart failure Spontaneous abortion Celiac disease Iron deficiency anemia Thrombocytosis Chronic fatigue Prolonged partial thromboplastin time Stomatitis Prolonged prothrombin time Abnormality of the abdominal wall Folate deficiency Vitamin D deficiency Vitamin K deficiency Vitamin B12 deficiency Recurrent respiratory infections Hypoplasia of dental enamel Hepatosplenomegaly Otitis media Recurrent otitis media Bronchiectasis Conjunctivitis Purpura Recurrent upper respiratory tract infections Clubbing Inflammation of the large intestine Combined immunodeficiency Interstitial pulmonary abnormality Colitis Recurrent sinusitis Fatigable weakness Hypocalcemia Cerebral calcification Hypsarrhythmia Transient neonatal diabetes mellitus Progressive neurologic deterioration Aspiration Failure to thrive in infancy Bilateral ptosis Radial deviation of finger Polyuria Abnormality of the ear Abnormality of the immune system Prominent metopic ridge Aspiration pneumonia Autoimmune antibody positivity Limb joint contracture Beta-cell dysfunction Thickened ears Nevus Elevated hemoglobin A1c Clinodactyly of the 4th finger Depressivity Alopecia Osteoporosis Abdominal pain Weight loss Arthralgia Anxiety Irritability Postnatal growth retardation Infertility Polyneuropathy Abdominal distention Abnormal aldolase level



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Delayed speech and language development and Hypopigmentation of the skin, related diseases and genetic alterations Lymphoma and Aggressive behavior, related diseases and genetic alterations Ptosis and Recurrent infections, related diseases and genetic alterations Cognitive impairment and Pectus carinatum, related diseases and genetic alterations

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